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Clinical genetics


We investigate genetic disorders at a molecular level in a translational research setting in order to understand disease mechanisms, apply new knowledge in genetic diagnostics, improve prognosis assessment and develop new treatment strategies. Our research group consists of four teams and our main interests are hematological malignancies, with a particular focus on chronic lymphocytic leukemia, lymphomas and pediatric acute lymphoblastic leukemia, metabolic bone disorders, and cancer genetics.



Chronic lymphocytic leukemia (CLL) / Lymphoma

PI: Professor Richard Rosenquist Brandell

Chronic lymphocytic leukemia (CLL) is characterized by accumulation of monoclonal B cells in secondary lymphoid organs, bone marrow and peripheral blood. The median age at diagnosis is 71 years and men are more frequently affected than women. The disease is clinically and biologically heterogeneous, ranging from indolent with no treatment requirement, to a very aggressive disease characterized by chemorefractoriness and poor survival. In clinical practice, two staging systems are used (Rai and Binet) however, despite their clinical utility, they are unable to predict which patients with low tumor burden will experience an aggressive disease as opposed to an indolent course. There are currently several molecular markers that stratify CLL into prognostic subgroups, the most important of which are the mutational status of the immunoglobulin heavy variable (IGHV) genes, as well as recurrent chromosomal aberrations, where deletion of 17p (harboring the TP53 gene) is associated with an aggressive disease course and poor outcome. To this day CLL remains incurable but novel therapies using antibodies and small molecule inhibitors have advanced the field substantially.


Four main research areas

Our research projects can be subdivided in four main areas. These are:

1. Defining the molecular make-up of CLL subsets expressing stereotyped B-cell receptors, which currently represent the most meaningful homogeneous subgroups to investigate. We use multiple high throughput, next-generation sequencing (NGS) technologies, including whole-genome-, transcriptome- and single-cell sequencing, as well as high-resolution methylation arrays in a clinically well-characterized CLL cohort that express stereotyped B-cell receptors. Functional analyses are performed on selected mutations/transcripts to study their effects at a cellular level by utilizing knock-down (shRNA, CRISPR/Cas9) or transfection assays in CLL cell lines.


2. Identifying dysregulated intracellular signaling pathways and processes in distinct CLL subsets. We use different OMICs approaches including RNA-sequencing and proteomics that enables in-depth analyses of dysregulated signaling pathways in CLL. We also apply phospho-flow cytometry that measures protein phosphorylation events at single cell level and allows for simultaneous analysis of multiple signaling proteins and pathways. Focus is on B-cell receptor, MAPK/ERK, STAT and NF-kB signaling pathways.


3. Understanding resistance mechanisms in CLL using NGS and high throughput drug screening, with a focus on patients that relapse within a short period of receiving therapy. We combine whole-exome/genome sequencing in primary cells in pre- and post-treated samples from patients receiving small molecule inhibitors. Additionally, we carry out comprehensive high throughput drug testing on tumor cells from CLL patients relapsing after receiving targeted therapy in order to systematically identify drug sensitivities and resistance patterns.


4. Validating, harmonizing and implementing NGS-based assays for clinical routine diagnostics. For this purpose, we work together with the European Research Initiative in CLL (ERIC) and perform multicenter validation of novel genetic findings and assays. We assess the clinical impact of recurrent mutations in large well-annotated international series of CLL cases for which both molecular and clinical characteristics are available. Once validated, new biomarkers or assays can be transferred at a national level to routine diagnostics, using the SciLifeLab Diagnostics Development platform or Genomic Medicine Sweden.


Pediatric Leukemia

PI: Associate Professor Gisela Barbany

The focus of the pediatric leukemia team is translational research in malignant hematology, in particular genetic characterization of pediatric acute lymphoblastic leukemia (ALL). The overall goal of the group is to improve the tools used in the stratification of ALL patients. For that purpose, we are working with four different subprojects:

1. Implement next-generation sequencing techniques in the diagnostic setting of ALL and validate whole-genome sequencing (WGS) as a routine diagnostic procedure for acute leukemia. We also develop quantitative methods using the unique sequences generated by structural events in the leukemic blasts to monitor therapy response.

2. We investigate particular genetic subgroups of ALL to understand the impact on blast biology and behavior of the driving genetic event.


3. We study ALL patients lacking stratifying genetic markers and try to identify and validate novel potential genetic markers.


4. We investigate the pathogenic mechanisms underlying the genetic events that recurrently affect particular regions of the genome in acute leukemia.

Significance: Through the combination of different high-throughput methodologies, our studies will contribute to understand the consequences of genetic aberrations on leukemia biology and behavior as well as the mechanisms that make these chromosome regions prone to recurrently engage in complex rearrangements. We expect that our studies combined will improve the diagnostic procedures that underlie risk stratification of ALL patients and thus contribute to decrease over- and undertreatment of children with ALL.

pediatric leuk

Metabolic Bone Diseases

PI: Professor Outi Mäkitie

Our team studies genetic defects and molecular mechanisms underlying skeletal disorders, with main focus on early-onset primary osteoporosis, skeletal dysplasias, and vitamin D.

Osteoporosis is a skeletal disorder characterized by reduced bone mineral density, compromised bone strength, and susceptibility to fractures. Genetic factors play a major role in disease susceptibility and characteristics. Due to the silent development of the disease, diagnosis is usually made at adult age when the severe consequences of bone fragility emerge, but the disease often has its onset in childhood. The pathomolecular mechanisms leading to disease in young patients with novel forms of osteoporosis have yet to be fully explored. Moreover, evidence on efficacy of currently available treatments for osteoporosis in children and young adults is still lacking.

Skeletal dysplasias encompass a group of more than 400 monogenic diseases with significant skeletal involvement. Due to the rarity of these conditions and their broad clinical and genetic heterogeneity, many families still lack a genetic diagnosis and novel gene defects remain to be characterized. The lack of pharmacological treatment options for most subtypes of skeletal dysplasia is a further challenge and merits better understanding of disease mechanisms.

Vitamin D deficiency is a significant health concern in several populations. Recent studies by others and us have shown that especially children with a chronic illness, including childhood cancer, are at high risk of vitamin D deficiency. This in turn may have significant health consequences, including impaired skeletal health.

By combining genetic testing, primarily next-generation sequencing, and in vitro functional studies our aims are:

1. To characterize novel variants and genes involved in skeletal development and maintenance. We have collected detailed clinical information and genomic DNA from several families affected by early-onset osteoporosis and some subtypes of skeletal dysplasias with unknown genetic causes. By applying whole-genome sequencing, we aim to pinpoint the genetic cause of disease in these families. Once a novel candidate variant is identified, molecular studies at RNA and protein levels are carried out to elucidate the biological effects of the identified gene variants.


2. To decipher the role of novel and previously identified gene defects. Cell biological disease mechanisms are investigated by studying patient-derived cells. Skin-derived fibroblasts from several families with rare skeletal diseases as well as bone marrow from a handful of patients have been collected. Different in vitro assays are carried out to study the pathomechanisms based on specific research questions and function of the investigated gene. Part of our research focus on skeletal progenitors (mesenchymal stromal cells, MSCs) and their role in skeletal cell differentiation and function in metabolic bone diseases.

3. To elucidate the role of Vitamin D in bone health. We have an ongoing large-scale vitamin D intervention study in infants (VIDI) that aims to find means to optimize vitamin D status in young children. Genetic data from this cohort allow us to perform genome-wide association studies to search for novel genetic loci associated with circulating vitamin D levels and bone health in a prospective longitudinal setting.

Significance: By identifying novel disease-gene associations and by understanding the disease pathogenesis we will establish means for early diagnosis, and better prevention and treatment of childhood-onset skeletal disorders.

metab bone dis

Cancer Genetics

PI: Emma Tham, Senior researcher

Genetic alterations underlie all forms of cancer: in most cases, these changes are somatic and give rise to sporadic cancer. In 10% of cases, they are inherited and constitutional and cause hereditary cancer. Individuals carrying a predisposing genetic variant have an increased risk of developing cancer (and sometimes other symptoms) and benefit from prevention schemes. However, as most hereditary cancer is rare, knowledge regarding the causative genes, as well as evidence regarding cancer risks and surveillance are lacking.

When tumor cells die, they release their DNA into body fluids such as blood and thus it is possible to detect their genetic alterations in a blood sample (so called liquid biopsy). These cell-free tumor DNA (ctDNA) fragments make up a minor proportion of the cell free DNA fragments that mostly derive from the blood cells and therefore, very sensitive methods are required in order to detect them. ctDNA has the potential to revolutionize cancer diagnostics and are of particular relevance in high-risk individuals with cancer predisposition. ctDNA may also serve as a predictive biomarker that can be used to monitor therapy response and minimal residual disease in sporadic cancers.

Our research involves the following studies:

The Cancer Predisposition study (CAP) aims to systematically include all individuals with rare hereditary cancer, with and without a genetic cause. The aims are:

1. To discover new genetic causes for hereditary cancer using the novel massive parallel DNA/RNA sequencing techniques

2. To characterize rare cancer syndromes in order to offer personalized prevention


SWEP53: Molecular Characterization and Clinical Aspects of Germline TP53 Mutations in the Swedish Constitutional TP53 Cohort (national study, ISRCTN13103571). Collaboration project with Associate Prof. Svetlana Lagercrantz, Dept of Oncology and Pathology. The aims are to:

1. Characterize the constitutional TP53 cohort in Sweden


2. Evaluate the medical and psychosocial effects of rapid whole-body; brain and breast MRI as surveillance


3. Evaluate liquid biopsy as a complement to clinical and radiological surveillance


Cell-free tumor DNA for early diagnosis, prognosis and monitoring of cancer. The aims are to:

1. Evaluate ctDNA as a complement to clinical and radiological surveillance in individuals with hereditary predisposition for cancer


2. Evaluate ctDNA as a prognostic biomarker prior to surgery in patients with cancer


3. Evaluate ctDNA as a complement to clinical and radiological surveillance in following therapy response, monitoring minimal residual disease and detecting relapse       


Our team also participates in other studies that aim to improve the diagnosis of hereditary cancer through optimized genetic characterization of specific cancer types and improved genetic counselling.


We work closely with Clinical Genetics at Karolinska University Hospital on molecular diagnosis and monitoring of hematological malignancies and investigation of patients with hereditary cancer. We are also active in Genomic Medicine Sweden (GMS) and Genomic Medicine Centre Karolinska (GMCK) within solid tumors and liquid biopsy and involved in the European Reference Network for Genetic Tumor Risk Syndromes (GENTURIS).

Cancer gen

Group Leader Biography

Richard Rosenquist Brandell was appointed Professor of Clinical Genetics at the Department of Molecular Medicine and Surgery, Karolinska Institutet and Senior Physician in Clinical Genetics at Karolinska University Hospital, Sweden in 2017. He received his medical degree (1996) and PhD degree (1998) at Umeå University, Sweden, undertook a postdoctoral period at the Department of Pathology, Frankfurt am Main, Germany, and became specialist in Clinical Genetics 2004. Richard Rosenquist Brandell started his own research group at Uppsala University in 2000, focusing on molecular characterization of lymphoid malignancies, and his group rapidly became internationally renowned. He became Professor of Molecular Hematology in 2007 at the Department of Immunology, Genetics and Pathology, Uppsala University. He has initiated and led the SciLifeLab Clinical Genomics Facility in Uppsala between 2013-2017 and is currently Platform Director for the national Diagnostics Development Platform within SciLifeLab. More recently, he is coordinating the Genomic Medicine Sweden initiative that aims to build a new type of infrastructure within Swedish healthcare that implements precision medicine at a national level.

By employing a translational approach and utilizing cutting‐edge molecular tools, including next-generation sequencing technologies, Richard Rosenquist Brandell has made outstanding contributions to our understanding of the mechanisms behind the development of chronic lymphocytic leukemia (CLL), the most common adult leukemia. His studies have identified novel prognostic and predictive markers, defined new clinically relevant CLL subgroups, as well as provided significantly improved risk stratification at the individual patient level. Even more importantly, Rosenquist Brandell’s team has presented compelling evidence for a role of antigens (both autoantigens and microbial antigens) in the pathogenesis of CLL, which has generated great interest internationally. He has also built competitive networks at the national, European and international level. He is one of five founding members of an eminent European network of CLL researcher with an impressive combined cohort of more than 34,000 CLL patients from 24 academic institutions.

Richard Rosenquist Brandell has successfully supervised 23 PhD students as well as seven postdocs, and his research has resulted in more than 200 peer-reviewed papers. He was recently selected as Wallenberg Clinical Scholars 2017 by the Knut and Alice Wallenberg Foundation. 


Genomic Medicine Sweden

Richard Rosenquist Brandell is the director of Genomic Medicine Sweden (GMS) initiative that aims to build a new type of infrastructure within Swedish healthcare that implements precision medicine at a national level. This is the link to the GMS website.

medi news

News in the media

Precision medicine new opportunity for complex diseases

Press release 2021-07-05

Sweden’s innovation agency Vinnova extends the funding of Genomic Medicine Sweden with additional SEK 36 million

Press release 2020-07-02

Joint effort to develop whole-genome sequencing for patients with acute leukemia

Press release 2020-05-28


News article in Dagens Medicin 2020-07-02

"Storsatsning på precisionsmedicin"

Genomic Medicine Sweden receives SEK 43,8 million from Vinnova

Press release 2018-11-21


Selected publications

Meggendorfer M, Jobanputra V, Wrzeszczynski Ko, Roepman P, De Bruijn E, Cuppen E, Buttner R, Caldas C, Grimmond S, Mullighan Cg, Elemento O, Rosenquist R, Schuh A, Haferlach T. Analytical demands to use whole-genome sequencing in precision oncology Seminars in cancer biology 2021;():-

Karamanidou C, Xochelli A, Papaioannou M, Moysiadis T, Scarfo L, Mattsson M, Stavroyianni N, Rosenquist R, Ghia P, Stamatopoulos K. Assessing Patients' Knowledge on Chronic Lymphocytic Leukemia: Validation of the ERIC CLL Knowledge Questionnaire in Greece. HemaSphere 2021;5(3):e546-

Rosenquist R, Cuppen E, Buettner R, Caldas C, Dreau H, Elemento O, Frederix G, Grimmond S, Haferlach T, Jobanputra V, Meggendorfer M, Mullighan Cg, Wordsworth S, Schuh A. Clinical utility of whole-genome sequencing in precision oncology 

Seminars in cancer biology 2021;():-

Sutton La, Ljungström V, Enjuanes A, Cortese D, Skaftason A, Tausch E, Stano Kozubik K, Nadeu F, Armand M, Malcikova J, Pandzic T, Forster J, Davis Z, Oscier D, Rossi D, Ghia P, Strefford Jc, Pospisilova S, Stilgenbauer S, Davi F, Campo E, Stamatopoulos K, Rosenquist R, On Behalf Of The European Research Initiative On Cll Eric. Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study Haematologica 2021;106(3):682-691

Leeksma Ac, Baliakas P, Moysiadis T, Puiggros A, Plevova K, Van Der Kevie-kersemaekers Am, Posthuma H, Rodriguez-vicente Ae, Tran An, Barbany G, Mansouri L, Gunnarsson R, Parker H, Van Den Berg E, Bellido M, Davis Z, Wall M, Scarpelli I, Österborg A, Hansson L, Jarosova M, Ghia P, Poddighe P, Espinet B, Pospisilova S, Tam C, Ysebaert L, Nguyen-khac F, Oscier D, Haferlach C, Schoumans J, Stevens-kroef M, Eldering E, Stamatopoulos K, Rosenquist R, Strefford Jc, Mellink C, Kater Ap. Genomic arrays identify high-risk chronic lymphocytic leukemia with genomic complexity: a multi-center study Haematologica 2021;106(1):87-97

Edsjö A, Friedman M, Rosenquist R. [Genomic Medicine Sweden - a national initiative for the broad introduction of precision medicine in Swedish healthcare]

Lakartidningen 2021;118():-

Agathangelidis A, Chatzidimitriou A, Gemenetzi K, Giudicelli V, Karypidou M, Plevova K, Davis Z, Yan Xj, Jeromin S, Schneider C, Pedersen Lb, Tschumper Rc, Sutton La, Baliakas P, Scarfò L, Van Gastel Ej, Armand M, Tausch E, Biderman B, Baer C, Bagnara D, Navarro A, Langlois De Septenville A, Guido V, Mitterbauer-hohendanner G, Dimovski A, Brieghel C, Lawless S, Meggendorfer M, Brazdilova K, Ritgen M, Facco M, Tresoldi C, Visentin A, Patriarca A, Catherwood M, Bonello L, Sudarikov A, Vanura K, Roumelioti M, Skuhrova Francova H, Moysiadis T, Veronese S, Giannopoulos K, Mansouri L, Karan-djurasevic T, Sandaltzopoulos R, Bödör C, Fais F, Kater A, Panovska I, Rossi D, Alshemmari S, Panagiotidis P, Costeas P, Espinet B, Antic D, Foroni L, Montillo M, Trentin L, Stavroyianni N, Gaidano G, Francia Di Celle P, Niemann C, Campo E, Anagnostopoulos A, Pott C, Fischer K, Hallek M, Oscier D, Stilgenbauer S, Haferlach C, Jelinek D, Chiorazzi N, Pospisilova S, Lefranc Mp, Kossida S, Langerak Aw, Belessi C, Davi F, Rosenquist R, Ghia P, Stamatopoulos K. Higher-order connections between stereotyped subsets: implications for improved patient classification in CLL Blood 2021;137(10):1365-1376

Gemenetzi K, Psomopoulos F, Carriles Aa, Gounari M, Minici C, Plevova K, Sutton La, Tsagiopoulou M, Baliakas P, Pasentsis K, Anagnostopoulos A, Sandaltzopoulos R, Rosenquist R, Davi F, Pospisilova S, Ghia P, Stamatopoulos K, Degano M, Chatzidimitriou A. Higher-order immunoglobulin repertoire restrictions in CLL: the illustrative case of stereotyped subsets 2 and 169. Blood 2021;137(14):1895-1904

Rosenquist R. Molecular diagnostics and reporting in lymphoid malignancies: Current status and beyondHematological oncology 2021;39 Suppl 1():73-77.

Husby S, Favero F, Rodriguez-gonzalez Fg, Sutton La, Haastrup Ek, Ørskov Ad, Hansen Jw, Arboe B, Aslan D, Clasen-linde E, Rahbek Gjerdrum Lm, Gørlev Js, Brown P, Fischer-nielsen A, Rosenquist R, Weischenfeldt J, Grønbæk K. Mutations known from B-cell lymphoid malignancies are not found in CD34+ stem cells from patients with lymphomaLeukemia & lymphoma 2021;():1-4

Hellström Lindberg E, Cavelier L, Cammenga J, Andersson Po, Fioretos T, Rosenquist R. [Precision diagnostics and therapy in hematological malignancies]

Lakartidningen 2021;118():-

Ntoufa S, Gerousi M, Laidou S, Psomopoulos F, Tsiolas G, Moysiadis T, Papakonstantinou N, Mansouri L, Anagnostopoulos A, Stavrogianni N, Pospisilova S, Plevova K, Makris Am, Rosenquist R, Stamatopoulos K. RPS15 mutations rewire RNA translation in chronic lymphocytic leukemiaBlood advances 2021;5(13):2788-2792

Franks Pw, Melén E, Friedman M, Sundström J, Kockum I, Klareskog L, Almqvist C, Bergen Se, Czene K, Hägg S, Hall P, Johnell K, Malarstig A, Catrina A, Hagström H, Benson M, Gustav Smith J, Gomez Mf, Orho-melander M, Jacobsson B, Halfvarson J, Repsilber D, Oresic M, Jern C, Melin B, Ohlsson C, Fall T, Rönnblom L, Wadelius M, Nordmark G, Johansson Å, Rosenquist R, Sullivan Pf. Technological readiness and implementation of genomic-driven precision medicine for complex diseases

Journal of internal medicine 2021;():-

Stenzinger A, Edsjö A, Ploeger C, Friedman M, Fröhling S, Wirta V, Seufferlein T, Botling J, Duyster J, Akhras M, Thimme R, Fioretos T, Bitzer M, Cavelier L, Schirmacher P, Malek N, Rosenquist R, Gms Working Groups And Zpm Working Groups. Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany

Seminars in cancer biology 2021;():-

Ioannou N, Hagner Pr, Stokes M, Gandhi Ak, Apollonio B, Fanous M, Papazoglou D, Sutton La, Rosenquist R, Amini Rm, Chiu H, Lopez-girona A, Janardhanan P, Awan Ft, Jones J, Kay Ne, Shanafelt Td, Tallman Ms, Stamatopoulos K, Patten Pem, Vardi A, Ramsay Ag. Triggering interferon signaling in T cells with avadomide sensitizes CLL to anti-PD-L1/PD-1 immunotherapy. Blood 2021;137(2):216-231

Abdulla M, Hollander P, Pandzic T, Mansouri L, Ednersson Sb, Andersson Po, Hultdin M, Fors M, Erlanson M, Degerman S, Petersen Hm, Asmar F, Grønbaek K, Enblad G, Cavelier L, Rosenquist R, Amini Rm. Cell-of-origin determined by both gene expression profiling and immunohistochemistry is the strongest predictor of survival in patients with diffuse large B-cell lymphomaAmerican journal of hematology 2020;95(1):57-67

Baecklund F, Ekberg S, Rosenquist R, Askling J, Eloranta S, Smedby Ke. Concordance in survival among first-degree relatives diagnosed with indolent lymphoid malignancies including chronic lymphocytic leukemia. European journal of haematology 2020;105(6):779-785

Davi F, Langerak Aw, De Septenville Al, Kolijn Pm, Hengeveld Pj, Chatzidimitriou A, Bonfiglio S, Sutton La, Rosenquist R, Ghia P, Stamatopoulos K, Eric The European Research Initiative On Cll And The Euroclonality-ngs Working Group.Immunoglobulin gene analysis in chronic lymphocytic leukemia in the era of next generation sequencing. Leukemia 2020;34(10):2545-2551

Condoluci A, Terzi Di Bergamo L, Langerbeins P, Hoechstetter Ma, Herling Cd, De Paoli L, Delgado J, Rabe Kg, Gentile M, Doubek M, Mauro Fr, Chiodin G, Mattsson M, Bahlo J, Cutrona G, Kotaskova J, Deambrogi C, Smedby Ke, Spina V, Bruscaggin A, Wu W, Moia R, Bianchi E, Gerber B, Zucca E, Gillessen S, Ghielmini M, Cavalli F, Stussi G, Hess Ma, Baumann Ts, Neri A, Ferrarini M, Rosenquist R, Forconi F, Foà R, Pospisilova S, Morabito F, Stilgenbauer S, Döhner H, Parikh Sa, Wierda Wg, Montserrat E, Gaidano G, Hallek M, Rossi D. International prognostic score for asymptomatic early-stage chronic lymphocytic leukemia. Blood 2020;135(21):1859-1869

Jaramillo S, Agathangelidis A, Schneider C, Bahlo J, Robrecht S, Tausch E, Bloehdorn J, Hoechstetter M, Fischer K, Eichhorst B, Goede V, Hallek M, Dohner H, Rosenquist R, Ghia P, Stamatopoulos K, Stilgenbauer S. Prognostic impact of prevalent chronic lymphocytic leukemia stereotyped subsets: analysis within prospective clinical trials of the German CLL Study Group. HAEMATOLOGICA 2020;105(11):2598-2607

Mattsson A, Sylvan Se, Asklid A, Wiggh J, Winqvist M, Lundin J, Mansouri L, Rosenquist R, Johansson H, Österborg A, Hansson L. Risk-adapted bendamustine + rituximab is a tolerable treatment alternative for elderly patients with chronic lymphocytic leukaemia: a regional real-world report on 141 consecutive Swedish patients. British journal of haematology 2020;191(3):426-432

Brieghel C, Da Cunha-bang C, Yde Cw, Schmidt Ay, Kinalis S, Nadeu F, Andersen Ma, Jacobsen Lo, Andersen Mk, Pedersen Lb, Delgado J, Baumann T, Mattsson M, Mansouri L, Rosenquist R, Campo E, Nielsen Fc, Niemann Cu. The Number of Signaling Pathways Altered by Driver Mutations in Chronic Lymphocytic Leukemia Impacts Disease OutcomeClinical cancer research : an official journal of the American Association for Cancer Research 2020;26(6):1507-1515

Barbany G, Arthur C, Liedén A, Nordenskjöld M, Rosenquist R, Tesi B, Wallander K, Tham E. Cell-free tumour DNA testing for early detection of cancer - a potential future toolJournal of internal medicine 2019;286(2):118-136

Wojdacz Tk, Amarasinghe He, Kadalayil L, Beattie A, Forster J, Blakemore Sj, Parker H, Bryant D, Larrayoz M, Clifford R, Robbe P, Davis Za, Else M, Howard Dr, Stamatopoulos B, Steele Aj, Rosenquist R, Collins A, Pettitt Ar, Hillmen P, Plass C, Schuh A, Catovsky D, Oscier Dg, Rose-zerilli Mjj, Oakes Cc, Strefford Jc. Clinical significance of DNA methylation in chronic lymphocytic leukemia patients: results from 3 UK clinical trialsBlood advances 2019;3(16):2474-2481

Moysiadis T, Baliakas P, Rossi D, Catherwood M, Strefford Jc, Delgado J, Anagnostopoulos A, Belessi C, Stavroyianni N, Pospisilova S, Oscier D, Gaidano G, Campo E, Rosenquist R, Ghia P, Stamatopoulos K. Different time-dependent changes of risk for evolution in chronic lymphocytic leukemia with mutated or unmutated antigen B cell receptors. Leukemia 2019;33(7):1801-1805

Xochelli A, Bikos V, Polychronidou E, Galigalidou C, Agathangelidis A, Charlotte F, Moschonas P, Davis Z, Colombo M, Roumelioti M, Sutton La, Groenen P, Van Den Brand M, Boudjoghra M, Algara P, Traverse-glehen A, Ferrer A, Stalika E, Karypidou M, Kanellis G, Kalpadakis C, Mollejo M, Pangalis G, Vlamos P, Amini Rm, Pospisilova S, Gonzalez D, Ponzoni M, Anagnostopoulos A, Giudicelli V, Lefranc Mp, Espinet B, Panagiotidis P, Piris Ma, Du Mq, Rosenquist R, Papadaki T, Belessi C, Ferrarini M, Oscier D, Tzovaras D, Ghia P, Davi F, Hadzidimitriou A, Stamatopoulos K. Disease-biased and shared characteristics of the immunoglobulin gene repertoires in marginal zone B cell lymphoproliferations. The Journal of pathology 2019;247(4):416-421

Tsagiopoulou M, Papakonstantinou N, Moysiadis T, Mansouri L, Ljungström V, Duran-ferrer M, Malousi A, Queirós Ac, Plevova K, Bhoi S, Kollia P, Oscier D, Anagnostopoulos A, Trentin L, Ritgen M, Pospisilova S, Stavroyianni N, Ghia P, Martin-subero Ji, Pott C, Rosenquist R, Stamatopoulos K. DNA methylation profiles in chronic lymphocytic leukemia patients treated with chemoimmunotherapyClinical epigenetics 2019;11(1):177-

Mundt F, Merrien M, Nygren L, Sutton La, Christensson B, Wahlin Be, Rosenquist R, Sander B, Wasik Am. Expression of GNAZ, encoding the Gαz protein, predicts survival in mantle cell lymphomaBritish journal of haematology 2019;185(4):708-712

Kosalai St, Morsy Mha, Papakonstantinou N, Mansouri L, Stavroyianni N, Kanduri C, Stamatopoulos K, Rosenquist R, Kanduri M. EZH2 upregulates the PI3K/AKT pathway through IGF1R and MYC in clinically aggressive chronic lymphocytic leukaemia

Epigenetics 2019;14(11):1125-1140

Arribas Aj, Rinaldi A, Chiodin G, Kwee I, Mensah Aa, Cascione L, Rossi D, Kanduri M, Rosenquist R, Zucca E, Johnson Pw, Gaidano G, Oakes Cc, Bertoni F, Forconi F. Genome-wide promoter methylation of hairy cell leukemia. Blood advances 2019;3(3):384-396

Agathangelidis A, Rosenquist R, Davi F, Ghia P, Belessi C, Hadzidimitriou A, Stamatopoulos K. Immunoglobulin Gene Analysis in Chronic Lymphocytic Leukemia

Methods in molecular biology (Clifton, N.J.) 2019;1881():51-62

Chartomatsidou E, Ntoufa S, Kotta K, Rovida A, Akritidou Ma, Belloni D, Ferrero E, Trangas T, Stavroyianni N, Anagnostopoulos A, Rosenquist R, Ghia P, Papakonstantinou N, Stamatopoulos K. Inhibition of EZH2 and immune signaling exerts synergistic antitumor effects in chronic lymphocytic leukemiaBlood advances 2019;3(12):1891-1896

Sasi Bk, Martines C, Xerxa E, Porro F, Kalkan H, Fazio R, Turkalj S, Bojnik E, Pyrzynska B, Stachura J, Zerrouqi A, Bobrowicz M, Winiarska M, Priebe V, Bertoni F, Mansouri L, Rosenquist R, Efremov Dg. Inhibition of SYK or BTK augments venetoclax sensitivity in SHP1-negative/BCL-2-positive diffuse large B-cell lymphomaLeukemia 2019;33(10):2416-2428

Papakonstantinou N, Ntoufa S, Tsagiopoulou M, Moysiadis T, Bhoi S, Malousi A, Psomopoulos F, Mansouri L, Laidou S, Papazoglou D, Gounari M, Pasentsis K, Plevova K, Kuci-emruli V, Duran-ferrer M, Davis Z, Ek S, Rossi D, Gaidano G, Ritgen M, Oscier D, Stavroyianni N, Pospisilova S, Davi F, Ghia P, Hadzidimitriou A, Belessi C, Martin-subero Ji, Pott C, Rosenquist R, Stamatopoulos K. Integrated epigenomic and transcriptomic analysis reveals TP63 as a novel player in clinically aggressive chronic lymphocytic leukemiaInternational journal of cancer 2019;144(11):2695-2706

Winqvist M, Andersson Po, Asklid A, Karlsson K, Karlsson C, Lauri B, Lundin J, Mattsson M, Norin S, Sandstedt A, Rosenquist R, Späth F, Hansson L, Österborg A, Swedish Cll Group. Long-term real-world results of ibrutinib therapy in patients with relapsed or refractory chronic lymphocytic leukemia: 30-month follow up of the Swedish compassionate use cohort. Haematologica 2019;104(5):e208-e210

Rosenquist R. p66Shc deficiency sets the scene for clinically aggressive chronic lymphocytic leukemia. Haematologica 2019;104(10):1914-1916

Baliakas P, Moysiadis T, Hadzidimitriou A, Xochelli A, Jeromin S, Agathangelidis A, Mattsson M, Sutton La, Minga E, Scarfò L, Rossi D, Davis Z, Villamor N, Parker H, Kotaskova J, Stalika E, Plevova K, Mansouri L, Cortese D, Navarro A, Delgado J, Larrayoz M, Young E, Anagnostopoulos A, Smedby Ke, Juliusson G, Sheehy O, Catherwood M, Strefford Jc, Stavroyianni N, Belessi C, Pospisilova S, Oscier D, Gaidano G, Campo E, Haferlach C, Ghia P, Rosenquist R, Stamatopoulos K, European Research Initiative On Cll (eric). Tailored approaches grounded on immunogenetic features for refined prognostication in chronic lymphocytic leukemiaHaematologica 2019;104(2):360-369

Jain N, Hartert K, Tadros S, Fiskus W, Havranek O, Ma Mcj, Bouska A, Heavican T, Kumar D, Deng Q, Moore D, Pak C, Liu Cl, Gentles Aj, Hartmann E, Kridel R, Smedby Ke, Juliusson G, Rosenquist R, Gascoyne Rd, Rosenwald A, Giancotti F, Neelapu Ss, Westin J, Vose Jm, Lunning Ma, Greiner T, Rodig S, Iqbal J, Alizadeh Aa, Davis Re, Bhalla K, Green Mr. Targetable genetic alterations of TCF4 (E2-2) drive immunoglobulin expression in diffuse large B cell lymphomaScience translational medicine 2019;11(497):-

Primo D, Scarfò L, Xochelli A, Mattsson M, Ranghetti P, Espinosa Ab, Robles A, Gorrochategui J, Martínez-lópez J, De La Serna J, González M, Gil Ac, Anguita E, Iraheta S, Munugalavadla V, Quéva C, Tannheimer S, Rosenquist R, Stamatopoulos K, Ballesteros J, Ghia P. A novel ex vivo high-throughput assay reveals antiproliferative effects of idelalisib and ibrutinib in chronic lymphocytic leukemia. Oncotarget 2018;9(40):26019-26031

Polychronidou E, Kalamaras I, Agathangelidis A, Sutton La, Yan Xj, Bikos V, Vardi A, Mochament K, Chiorazzi N, Belessi C, Rosenquist R, Ghia P, Stamatopoulos K, Vlamos P, Chailyan A, Overby N, Marcatili P, Hatzidimitriou A, Tzovaras D. Automated shape-based clustering of 3D immunoglobulin protein structures in chronic lymphocytic leukemia. BMC bioinformatics 2018;19(Suppl 14):414-

Wasik Am, Wu C, Mansouri L, Rosenquist R, Pan-hammarström Q, Sander B. Clinical and functional impact of recurrent S1PR1 mutations in mantle cell lymphoma

Blood advances 2018;2(6):621-625

Dietrich S, Oleś M, Lu J, Sellner L, Anders S, Velten B, Wu B, Hüllein J, Da Silva Liberio M, Walther T, Wagner L, Rabe S, Ghidelli-disse S, Bantscheff M, Oleś Ak, Słabicki M, Mock A, Oakes Cc, Wang S, Oppermann S, Lukas M, Kim V, Sill M, Benner A, Jauch A, Sutton La, Young E, Rosenquist R, Liu X, Jethwa A, Lee Ks, Lewis J, Putzker K, Lutz C, Rossi D, Mokhir A, Oellerich T, Zirlik K, Herling M, Nguyen-khac F, Plass C, Andersson E, Mustjoki S, Von Kalle C, Ho Ad, Hensel M, Dürig J, Ringshausen I, Zapatka M, Huber W, Zenz T. Drug-perturbation-based stratification of blood cancer. The Journal of clinical investigation 2018;128(1):427-445

Mansouri L, Wierzbinska Ja, Plass C, Rosenquist R. Epigenetic deregulation in chronic lymphocytic leukemia: Clinical and biological impact. Seminars in cancer biology 2018;51():1-11

Malcikova J, Tausch E, Rossi D, Sutton La, Soussi T, Zenz T, Kater Ap, Niemann Cu, Gonzalez D, Davi F, Gonzalez Diaz M, Moreno C, Gaidano G, Stamatopoulos K, Rosenquist R, Stilgenbauer S, Ghia P, Pospisilova S, European Research Initiative On Chronic Lymphocytic Leukemia (eric) — tp53 Network. ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation. Leukemia 2018;32(5):1070-1080

Went M, Sud A, Speedy H, Sunter Nj, Försti A, Law Pj, Johnson Dc, Mirabella F, Holroyd A, Li N, Orlando G, Weinhold N, Van Duin M, Chen B, Mitchell Js, Mansouri L, Juliusson G, Smedby Ke, Jayne S, Majid A, Dearden C, Allsup Dj, Bailey Jr, Pratt G, Pepper C, Fegan C, Rosenquist R, Kuiper R, Stephens Ow, Bertsch U, Broderick P, Einsele H, Gregory Wm, Hillengass J, Hoffmann P, Jackson Gh, Jöckel Kh, Nickel J, Nöthen Mm, Da Silva Filho Mi, Thomsen H, Walker Ba, Broyl A, Davies Fe, Hansson M, Goldschmidt H, Dyer Mjs, Kaiser M, Sonneveld P, Morgan Gj, Hemminki K, Nilsson B, Catovsky D, Allan Jm, Houlston Rs. Genetic correlation between multiple myeloma and chronic lymphocytic leukaemia provides evidence for shared aetiology

Blood cancer journal 2018;9(1):1-

Agathangelidis A, Ljungström V, Scarfò L, Fazi C, Gounari M, Pandzic T, Sutton La, Stamatopoulos K, Tonon G, Rosenquist R, Ghia P. Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations. Haematologica 2018;103(5):865-873

Agathangelidis A, Sutton La, Hadzidimitriou A, Tresoldi C, Langerak Aw, Belessi C, Davi F, Rosenquist R, Stamatopoulos K, Ghia P. Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation. Journal of visualized experiments : JoVE 2018;(141):-

Rosenquist R, Esteller M, Plass C. Introduction: Epigenetics in cancer. Seminars in cancer biology 2018;51():iv-v

Baliakas P, Mattsson M, Hadzidimitriou A, Minga E, Agathangelidis A, Sutton La, Scarfo L, Davis Z, Yan Xj, Plevova K, Sandberg Y, Vojdeman Fj, Tzenou T, Chu Cc, Veronese S, Mansouri L, Smedby Ke, Giudicelli V, Nguyen-khac F, Panagiotidis P, Juliusson G, Anagnostopoulos A, Lefranc Mp, Trentin L, Catherwood M, Montillo M, Niemann Cu, Langerak Aw, Pospisilova S, Stavroyianni N, Chiorazzi N, Oscier D, Jelinek Df, Shanafelt T, Darzentas N, Belessi C, Davi F, Ghia P, Rosenquist R, Stamatopoulos K. No improvement in long-term survival over time for chronic lymphocytic leukemia patients in stereotyped subsets #1 and #2 treated with chemo(immuno)therapy.

Haematologica 2018;103(4):e158-e161

Ljungström V, Rosenquist R. Not so lost in translation: RPS15 mutations in CLL

Blood 2018;132(22):2317-2319

Rawstron Ac, Kreuzer Ka, Soosapilla A, Spacek M, Stehlikova O, Gambell P, Mciver-brown N, Villamor N, Psarra K, Arroz M, Milani R, De La Serna J, Cedena Mt, Jaksic O, Nomdedeu J, Moreno C, Rigolin Gm, Cuneo A, Johansen P, Johnsen He, Rosenquist R, Niemann Cu, Kern W, Westerman D, Trneny M, Mulligan S, Doubek M, Pospisilova S, Hillmen P, Oscier D, Hallek M, Ghia P, Montserrat E. Reproducible diagnosis of chronic lymphocytic leukemia by flow cytometry: An European Research Initiative on CLL (ERIC) & European Society for Clinical Cell Analysis (ESCCA) Harmonisation projectCytometry. Part B, Clinical cytometry 2018;94(1):121-128

Campo E, Cymbalista F, Ghia P, Jäger U, Pospisilova S, Rosenquist R, Schuh A, Stilgenbauer S. TP53 aberrations in chronic lymphocytic leukemia: an overview of the clinical implications of improved diagnostics. Haematologica 2018;103(12):1956-1968

Glimelius B, Melin B, Enblad G, Alafuzoff I, Beskow A, Ahlström H, Bill-axelson A, Birgisson H, Björ O, Edqvist Ph, Hansson T, Helleday T, Hellman P, Henriksson K, Hesselager G, Hultdin M, Häggman M, Höglund M, Jonsson H, Larsson C, Lindman H, Ljuslinder I, Mindus S, Nygren P, Pontén F, Riklund K, Rosenquist R, Sandin F, Schwenk Jm, Stenling R, Stålberg K, Stålberg P, Sundström C, Thellenberg Karlsson C, Westermark B, Bergh A, Claesson-welsh L, Palmqvist R, Sjöblom T. U-CAN: a prospective longitudinal collection of biomaterials and clinical information from adult cancer patients in SwedenActa oncologica (Stockholm, Sweden) 2018;57(2):187-194

Stamatopoulos K, Agathangelidis A, Rosenquist R, Ghia P. Antigen receptor stereotypy in chronic lymphocytic leukemiaLeukemia 2017;31(2):282-291

Xochelli A, Baliakas P, Kavakiotis I, Agathangelidis A, Sutton La, Minga E, Ntoufa S, Tausch E, Yan Xj, Shanafelt T, Plevova K, Boudjogra M, Rossi D, Davis Z, Navarro A, Sandberg Y, Vojdeman Fj, Scarfo L, Stavroyianni N, Sudarikov A, Veronese S, Tzenou T, Karan-djurasevic T, Catherwood M, Kienle D, Chatzouli M, Facco M, Bahlo J, Pott C, Pedersen Lb, Mansouri L, Smedby Ke, Chu Cc, Giudicelli V, Lefranc Mp, Panagiotidis P, Juliusson G, Anagnostopoulos A, Vlahavas I, Antic D, Trentin L, Montillo M, Niemann C, Döhner H, Langerak Aw, Pospisilova S, Hallek M, Campo E, Chiorazzi N, Maglaveras N, Oscier D, Gaidano G, Jelinek Df, Stilgenbauer S, Chouvarda I, Darzentas N, Belessi C, Davi F, Hadzidimitriou A, Rosenquist R, Ghia P, Stamatopoulos K. Chronic Lymphocytic Leukemia with Mutated IGHV4-34 Receptors: Shared and Distinct Immunogenetic Features and Clinical Outcomes. Clinical cancer research : an official journal of the American Association for Cancer Research 2017;23(17):5292-5301

Young E, Noerenberg D, Mansouri L, Ljungström V, Frick M, Sutton La, Blakemore Sj, Galan-sousa J, Plevova K, Baliakas P, Rossi D, Clifford R, Roos-weil D, Navrkalova V, Dörken B, Schmitt Ca, Smedby Ke, Juliusson G, Giacopelli B, Blachly Js, Belessi C, Panagiotidis P, Chiorazzi N, Davi F, Langerak Aw, Oscier D, Schuh A, Gaidano G, Ghia P, Xu W, Fan L, Bernard Oa, Nguyen-khac F, Rassenti L, Li J, Kipps Tj, Stamatopoulos K, Pospisilova S, Zenz T, Oakes Cc, Strefford Jc, Rosenquist R, Damm F. EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemiaLeukemia 2017;31(7):1547-1554

Löf L, Arngården L, Olsson-strömberg U, Siart B, Jansson M, Dahlin Js, Thörn I, Christiansson L, Hermansson M, Larsson A, Ahlstrand E, Wålinder G, Söderberg O, Rosenquist R, Landegren U, Kamali-moghaddam M. Flow Cytometric Measurement of Blood Cells with BCR-ABL1 Fusion Protein in Chronic Myeloid Leukemia.

Scientific reports 2017;7(1):623-

Rosenquist R, Beà S, Du Mq, Nadel B, Pan-hammarström Q. Genetic landscape and deregulated pathways in B-cell lymphoid malignancies. Journal of internal medicine 2017;282(5):371-394

Law Pj, Berndt Si, Speedy He, Camp Nj, Sava Gp, Skibola Cf, Holroyd A, Joseph V, Sunter Nj, Nieters A, Bea S, Monnereau A, Martin-garcia D, Goldin Lr, Clot G, Teras Lr, Quintela I, Birmann Bm, Jayne S, Cozen W, Majid A, Smedby Ke, Lan Q, Dearden C, Brooks-wilson Ar, Hall Ag, Purdue Mp, Mainou-fowler T, Vajdic Cm, Jackson Gh, Cocco P, Marr H, Zhang Y, Zheng T, Giles Gg, Lawrence C, Call Tg, Liebow M, Melbye M, Glimelius B, Mansouri L, Glenn M, Curtin K, Diver Wr, Link Bk, Conde L, Bracci Pm, Holly Ea, Jackson Rd, Tinker Lf, Benavente Y, Boffetta P, Brennan P, Maynadie M, Mckay J, Albanes D, Weinstein S, Wang Z, Caporaso Ne, Morton Lm, Severson Rk, Riboli E, Vineis P, Vermeulen Rc, Southey Mc, Milne Rl, Clavel J, Topka S, Spinelli Jj, Kraft P, Ennas Mg, Summerfield G, Ferri Gm, Harris Rj, Miligi L, Pettitt Ar, North Ke, Allsup Dj, Fraumeni Jf, Bailey Jr, Offit K, Pratt G, Hjalgrim H, Pepper C, Chanock Sj, Fegan C, Rosenquist R, De Sanjose S, Carracedo A, Dyer Mj, Catovsky D, Campo E, Cerhan Jr, Allan Jm, Rothman N, Houlston R, Slager S. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

Nature communications 2017;8():14175-

Rosenquist R, Ghia P, Hadzidimitriou A, Sutton La, Agathangelidis A, Baliakas P, Darzentas N, Giudicelli V, Lefranc Mp, Langerak Aw, Belessi C, Davi F, Stamatopoulos K. Immunoglobulin gene sequence analysis in chronic lymphocytic leukemia: updated ERIC recommendations. Leukemia 2017;31(7):1477-1481

Sutton La, Hadzidimitriou A, Baliakas P, Agathangelidis A, Langerak Aw, Stilgenbauer S, Pospisilova S, Davis Z, Forconi F, Davi F, Ghia P, Rosenquist R, Stamatopoulos K, European Research Initiative On Cll (eric). Immunoglobulin genes in chronic lymphocytic leukemia: key to understanding the disease and improving risk stratification. Haematologica 2017;102(6):968-971

Smedby Ke, Rosenquist R. Introduction to the symposium 'Targeted therapy in B-cell malignancies'. Journal of internal medicine 2017;282(5):358-359

Pouliou E, Xochelli A, Kanellis G, Stalika E, Sutton La, Navarro A, Agathangelidis A, Dimosthenous K, Anagnostopoulos A, Patsouris E, Korkolopoulou P, Sundstrom C, Ghia P, Ponzoni M, Sander B, Campo E, Rosenquist R, Hadzidimitriou A, Stamatopoulos K, Papadaki T. Numerous Ontogenetic Roads to Mantle Cell Lymphoma: Immunogenetic and Immunohistochemical Evidence. The American journal of pathology 2017;187(7):1454-1458

Baecklund F, Foo Jn, Askling J, Eloranta S, Glimelius I, Liu Jj, Hjalgrim H, Rosenquist R, Padyukov L, Smedby Ke. Possible Interaction Between Cigarette Smoking and HLA-DRB1 Variation in the Risk of Follicular Lymphoma. AMERICAN JOURNAL OF EPIDEMIOLOGY 2017;185(8):681-687

Palma M, Gentilcore G, Heimersson K, Mozaffari F, Näsman-glaser B, Young E, Rosenquist R, Hansson L, Österborg A, Mellstedt H. T cells in chronic lymphocytic leukemia display dysregulated expression of immune checkpoints and activation markers. Haematologica 2017;102(3):562-572

Baliakas P, Puiggros A, Xochelli A, Sutton La, Nguyen-khac F, Gardiner A, Plevova K, Minga E, Hadzidimitriou A, Walewska R, Mccarthy H, Ortega M, Collado R, Gonzalez T, Granada I, Luno E, Kotaskova J, Moysiadis T, Davis Z, Stavroyianni N, Anagnostopoulos A, Strefford Jc, Pospisilova S, Davi F, Athanasiadou A, Rosenquist R, Oscier D, Espinet B, Stamatopoulos K. Additional trisomies amongst patients with chronic lymphocytic leukemia carrying trisomy 12: the accompanying chromosome makes a difference. HAEMATOLOGICA 2016;101(7):e299-302

Bikos V, Karypidou M, Stalika E, Baliakas P, Xochelli A, Sutton La, Papadopoulos G, Agathangelidis A, Papadopoulou E, Davis Z, Algara P, Kanellis G, Traverse-glehen A, Mollejo M, Anagnostopoulos A, Ponzoni M, Gonzalez D, Pospisilova S, Matutes E, Piris Ma, Papadaki T, Ghia P, Rosenquist R, Oscier D, Darzentas N, Tzovaras D, Belessi C, Hadzidimitriou A, Stamatopoulos K. An Immunogenetic Signature of Ongoing Antigen Interactions in Splenic Marginal Zone Lymphoma Expressing IGHV1-2*04 Receptors


Vardi A, Agathangelidis A, Stalika E, Karypidou M, Siorenta A, Anagnostopoulos A, Rosenquist R, Hadzidimitriou A, Ghia P, Sutton La, Stamatopoulos K. Antigen Selection Shapes the T-cell Repertoire in Chronic Lymphocytic LeukemiaCLINICAL CANCER RESEARCH 2016;22(1):167-74

Navrkalova V, Young E, Baliakas P, Radova L, Sutton La, Plevova K, Mansouri L, Ljungström V, Ntoufa S, Davis Z, Juliusson G, Smedby Ke, Belessi C, Panagiotidis P, Touloumenidou T, Davi F, Langerak Aw, Ghia P, Strefford Jc, Oscier D, Mayer J, Stamatopoulos K, Pospisilova S, Rosenquist R, Trbusek M. ATM mutations in major stereotyped subsets of chronic lymphocytic leukemia: enrichment in subset #2 is associated with markedly short telomeresHaematologica 2016;101(9):e369-73

Rosenquist R, Stamatopoulos K. B-cell malignancies: All roads lead to NF-kappa B activationSEMINARS IN CANCER BIOLOGY 2016;:1-2

Rosenquist R, Rosenwald A, Du Mq, Gaidano G, Groenen P, Wotherspoon A, Ghia P, Gaulard P, Campo E, Stamatopoulos K, European Research Initiative On Cll (eric) And The European Association For Haematopathology (eahp). Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond

Haematologica 2016;101(9):1002-9

Sutton La, Young E, Baliakas P, Hadzidimitriou A, Moysiadis T, Plevova K, Rossi D, Kminkova J, Stalika E, Pedersen Lb, Malcikova J, Agathangelidis A, Davis Z, Mansouri L, Scarfò L, Boudjoghra M, Navarro A, Muggen Af, Yan Xj, Nguyen-khac F, Larrayoz M, Panagiotidis P, Chiorazzi N, Niemann Cu, Belessi C, Campo E, Strefford Jc, Langerak Aw, Oscier D, Gaidano G, Pospisilova S, Davi F, Ghia P, Stamatopoulos K, Rosenquist R, Eric The European Research Initiative On Cll. Different spectra of recurrent gene mutations in subsets of chronic lymphocytic leukemia harboring stereotyped B-cell receptors. Haematologica 2016;101(8):959-67

Kopparapu Pk, Bhoi S, Mansouri L, Arabanian Ls, Plevova K, Pospisilova S, Wasik Am, Croci Ga, Sander B, Paulli M, Rosenquist R, Kanduri M. Epigenetic silencing of miR-26A1 in chronic lymphocytic leukemia and mantle cell lymphoma: Impact on EZH2 expression. Epigenetics 2016;11(5):335-43

Mansouri L, Noerenberg D, Young E, Mylonas E, Abdulla M, Frick M, Asmar F, Ljungström V, Schneider M, Yoshida K, Skaftason A, Pandzic T, Gonzalez B, Tasidou A, Waldhueter N, Rivas-delgado A, Angelopoulou M, Ziepert M, Arends Cm, Couronné L, Lenze D, Baldus Cd, Bastard C, Okosun J, Fitzgibbon J, Dörken B, Drexler Hg, Roos-weil D, Schmitt Ca, Munch-petersen Hd, Zenz T, Hansmann Ml, Strefford Jc, Enblad G, Bernard Oa, Ralfkiaer E, Erlanson M, Korkolopoulou P, Hultdin M, Papadaki T, Grønbæk K, Lopez-guillermo A, Ogawa S, Küppers R, Stamatopoulos K, Stavroyianni N, Kanellis G, Rosenwald A, Campo E, Amini Rm, Ott G, Vassilakopoulos Tp, Hummel M, Rosenquist R, Damm F. Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma. Blood 2016;128(23):2666-2670

Wu C, De Miranda Nf, Chen L, Wasik Am, Mansouri L, Jurczak W, Galazka K, Dlugosz-danecka M, Machaczka M, Zhang H, Peng R, Morin Rd, Rosenquist R, Sander B, Pan-hammarström Q. Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations Oncotarget 2016;7(25):38180-38190

Parker H, Rose-zerilli Mjj, Larrayoz M, Clifford R, Edelmann J, Blakemore S, Gibson J, Wang J, Ljungstrom V, Wojdacz Tk, Chaplin T, Roghanian A, Davis Z, Parker A, Tausch E, Ntoufa S, Ramos S, Robbe P, Alsolami R, Steele Aj, Packham G, Rodriguez-vicente Ae, Brown L, Mcnicholl F, Forconi F, Pettitt A, Hillmen P, Dyer M, Cragg Ms, Chelala C, Oakes Cc, Rosenquist R, Stamatopoulos K, Stilgenbauer S, Knight S, Schuh A, Oscier Dg, Strefford Jc. Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia. LEUKEMIA 2016;30(11):2179-2186

Pospisilova S, Sutton La, Malcikova J, Tausch E, Rossi D, Montserrat E, Moreno C, Stamatopoulos K, Gaidano G, Rosenquist R, Ghia P, European Research Initiative Cll E. Innovation In the prognostication of chronic lymphocytic leukemia: how far beyond TP53 gene analysis can we go? HAEMATOLOGICA 2016;101(3):263-5

Vickovic S, Ståhl Pl, Salmén F, Giatrellis S, Westholm Jo, Mollbrink A, Navarro Jf, Custodio J, Bienko M, Sutton La, Rosenquist R, Frisén J, Lundeberg J. Massive and parallel expression profiling using microarrayed single-cell sequencing. Nature communications 2016;7():13182-

Mansouri L, Papakonstantinou N, Ntoufa S, Stamatopoulos K, Rosenquist R. NF-κB activation in chronic lymphocytic leukemia: A point of convergence of external triggers and intrinsic lesionsSeminars in cancer biology 2016;39():40-8

Sutton La, Rosenquist R. Not all subclones matter in CLLBLOOD 2016;127(17):2052-4

Bhoi S, Ljungström V, Baliakas P, Mattsson M, Smedby Ke, Juliusson G, Rosenquist R, Mansouri L. Prognostic impact of epigenetic classification in chronic lymphocytic leukemia: The case of subset #2Epigenetics 2016;11(6):449-55

Baliakas P, Mattsson M, Stamatopoulos K, Rosenquist R. Prognostic indices in chronic lymphocytic leukaemia: where do we stand how do we proceed? JOURNAL OF INTERNAL MEDICINE 2016;279(4):347-57

Papakonstantinou N, Ntoufa S, Chartomatsidou E, Kotta K, Agathangelidis A, Giassafaki L, Karamanli T, Bele P, Moysiadis T, Baliakas P, Sutton La, Stavroyianni N, Anagnostopoulos A, Makris Am, Ghia P, Rosenquist R, Stamatopoulos K. The histone methyltransferase EZH2 as a novel prosurvival factor in clinically aggressive chronic lymphocytic leukemiaONCOTARGET 2016;7(24):35946-35959

Pandzic T, Larsson J, He Lq, Kundu S, Ban K, Akhtar-ali M, Hellstrom Ar, Schuh A, Clifford R, Blakemore Sj, Strefford Jc, Baumann T, Lopez-guillermo A, Campo E, Ljungstrom V, Mansouri L, Rosenquist R, Sjoblom T, Hellstrom M. Transposon Mutagenesis Reveals Fludarabine Resistance Mechanisms in Chronic Lymphocytic Leukemia. CLINICAL CANCER RESEARCH 2016;22(24):6217-6227

Mansouri L, Rosenquist R. Unraveling the DNA Methylome in Mantle Cell Lymphoma: New Insights into the Cellular Origin. Cancer cell 2016;30(5):665-667

Ljungström V, Cortese D, Young E, Pandzic T, Mansouri L, Plevova K, Ntoufa S, Baliakas P, Clifford R, Sutton La, Blakemore Sj, Stavroyianni N, Agathangelidis A, Rossi D, Höglund M, Kotaskova J, Juliusson G, Belessi C, Chiorazzi N, Panagiotidis P, Langerak Aw, Smedby Ke, Oscier D, Gaidano G, Schuh A, Davi F, Pott C, Strefford Jc, Trentin L, Pospisilova S, Ghia P, Stamatopoulos K, Sjöblom T, Rosenquist R. Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations. Blood 2016;127(8):1007-16

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