Publications

2025

Disease-specific U1 spliceosomal RNA mutations in mature B-cell neoplasms Nadeu F, Shuai S, Clot G, Hilton LK, Diaz-Navarro A, Martín S, Royo R, Baumann T, Kulis M, López-Oreja I, Cossio M, Lu J, Ljungström V, Young E, Plevova K, Knisbacher BA, Lin Z, Hahn CK, Bousquets P, Alcoceba M, González M, Colado E, Payer ÁR, Aymerich M, Terol MJ, Rivas-Delgado A, Enjuanes A, Ruiz-Gaspà S, Chatzikonstantinou T, Hägerstrand D, Jylhä C, Skaftason A, Mansouri L, Stranska K, Doubek M, van Gastel-Mol EJ, Davis Z, Walewska R, Scarfò L, Trentin L, Visentin A, Parikh SA, Rabe KG, Moia R, Armand M, Rossi D, Davi F, Gaidano G, Kay NE, Shanafelt TD, Ghia P, Oscier D, Langerak AW, Beà S, López-Guillermo A, Neuberg D, Wu CJ, Getz G, Pospisilova S, Stamatopoulos K, Rosenquist R, Huber W, Zenz T, Colomer D, Martín-Subero JI, Delgado J, Morin RD, Stein LD, Puente XS, Campo E. Leukemia DOI

2024

Accurate and sensitive mutational signature analysis with MuSiCal Jin H, Gulhan DC, Geiger B, Ben-Isvy D, Geng D, Ljungström V, Park PJ. Nat Genet DOI
Contribution of de novo retroelements to birth defects and childhood cancers Chu C, Ljungström V, Tran A, Jin H, Park PJ. medRxiv DOI
Loss of heterozygosity of CYP2D6 enhances the sensitivity of hepatocellular carcinomas to talazoparib Zhang X, Rameika N, Zhong L, Rendo V, Veanes M, Kundu S, Nuciforo S, Dupuis J, Al Azhar M, Tsiara I, Seeburger P, Al Nassralla S, Ljungström V, Svensson R, Stoimenov I, Artursson P, Heim MH, Globisch D, Sjöblom T. EBioMedicine DOI
Predicting response to immune checkpoint blockade therapy among mismatch repair-deficient patients using mutational signatures Gulhan DC, Viswanadham V, Muyas F, Jin H, Foote MB, Lee JJ, Barras D, Jung YL, Ljungstrom V, Rousseau B, Galor A, Diplas BH, Maron SB, Cleary JM, Cortés-Ciriano I, Park PJ. medRxiv DOI
Prognostic genome and transcriptome signatures in colorectal cancers Nunes L, Li F, Wu M, Luo T, Hammarström K, Torell E, Ljuslinder I, Mezheyeuski A, Edqvist PH, Löfgren-Burström A, Zingmark C, Edin S, Larsson C, Mathot L, Osterman E, Osterlund E, Ljungström V, Neves I, Yacoub N, Guðnadóttir U, Birgisson H, Enblad M, Ponten F, Palmqvist R, Xu X, Uhlén M, Wu K, Glimelius B, Lin C, Sjöblom T. Nature DOI
The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia Hägerstrand D, Oder B, Cortese D, Qu Y, Binzer-Panchal A, Österholm C, Del Peso Santos T, Rabbani L, Asl HF, Skaftason A, Ljungström V, Lundholm A, Koutroumani M, Haider Z, Jylhä C, Mollstedt J, Mansouri L, Plevova K, Agathangelidis A, Scarfò L, Armand M, Muggen AF, Kay NE, Shanafelt T, Rossi D, Orre LM, Pospisilova S, Barylyuk K, Davi F, Vesterlund M, Langerak AW, Lehtiö J, Ghia P, Stamatopoulos K, Sutton LA, Rosenquist R. Leukemia DOI

2023

A pan-tissue survey of mosaic chromosomal alterations in 948 individuals Gao T, Kastriti ME, Ljungström V, Heinzel A, Tischler AS, Oberbauer R, Loh PR, Adameyko I, Park PJ, Kharchenko PV. Nat Genet DOI
BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib Bonfiglio S, Sutton LA, Ljungström V, Capasso A, Pandzic T, Weström S, Foroughi-Asl H, Skaftason A, Gellerbring A, Lyander A, Gandini F, Gaidano G, Trentin L, Bonello L, Reda G, Bödör C, Stavroyianni N, Tam CS, Marasca R, Forconi F, Panayiotidis P, Ringshausen I, Jaksic O, Frustaci AM, Iyengar S, Coscia M, Mulligan SP, Ysebaert L, Strugov V, Pavlovsky C, Walewska R, Österborg A, Cortese D, Ranghetti P, Baliakas P, Stamatopoulos K, Scarfò L, Rosenquist R, Ghia P. Blood Adv DOI
ERα-associated translocations underlie oncogene amplifications in breast cancer Lee JJ, Jung YL, Cheong TC, Espejo Valle-Inclan J, Chu C, Gulhan DC, Ljungström V, Jin H, Viswanadham VV, Watson EV, Cortés-Ciriano I, Elledge SJ, Chiarle R, Pellman D, Park PJ. Nature DOI

2022

Clonal haematopoiesis as a risk factor for therapy-related myeloid neoplasms in patients with chronic lymphocytic leukaemia treated with chemo-(immuno)therapy Voso MT, Pandzic T, Falconi G, Denčić-Fekete M, De Bellis E, Scarfo L, Ljungström V, Iskas M, Del Poeta G, Ranghetti P, Laidou S, Cristiano A, Plevova K, Imbergamo S, Engvall M, Zucchetto A, Salvetti C, Mauro FR, Stavroyianni N, Cavelier L, Ghia P, Stamatopoulos K, Fabiani E, Baliakas P. Br J Haematol DOI
Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium Engvall M, Karlsson Y, Kuchinskaya E, Jörnegren Å, Mathot L, Pandzic T, Palle J, Ljungström V, Cavelier L, Hellström Lindberg E, Cammenga J, Baliakas P. Leuk Lymphoma DOI
Five Percent Variant Allele Frequency Is a Reliable Reporting Threshold for TP53 Variants Detected by Next Generation Sequencing in Chronic Lymphocytic Leukemia in the Clinical Setting Pandzic T, Ladenvall C, Engvall M, Mattsson M, Hermanson M, Cavelier L, Ljungström V, Baliakas P. Hemasphere DOI
Loss of Y and clonal hematopoiesis in blood-two sides of the same coin? Ljungström V, Mattisson J, Halvardson J, Pandzic T, Davies H, Rychlicka-Buniowska E, Danielsson M, Lacaze P, Cavelier L, Dumanski JP, Baliakas P, Forsberg LA. Leukemia DOI
Secondary resistance to idelalisib is characterized by upregulation of IGF1R rather than by MAPK/ERK pathway mutations Tausch E, Ljungström V, Agathangelidis A, Zapatka M, Scarfò L, Jebaraj BMC, Yosifov DY, Müller A, Munugalavadla V, Degenhardt JD, Ghia P, Rosenquist R, Stilgenbauer S. Blood DOI

2021

A single-tube multiplex method for monitoring mutations in cysteine 481 of Bruton Tyrosine Kinase (BTK) gene in chronic lymphocytic leukemia patients treated with ibrutinib Maffei R, Fiorcari S, Atene CG, Martinelli S, Scarfò L, Bonfiglio S, Maccaferri M, Ljungström V, Zucchini P, Forghieri F, Potenza L, Ghia P, Marasca R, Trenti T, Tagliafico E, Luppi M. Leuk Lymphoma DOI
Author Correction: Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort Mathioudaki A, Ljungström V, Melin M, Arendt ML, Nordin J, Karlsson Å, Murén E, Saksena P, Meadows JRS, Marinescu VD, Sjöblom T, Lindblad-Toh K. Sci Rep DOI
Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study 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. Haematologica DOI
Consistent B Cell Receptor Immunoglobulin Features Between Siblings in Familial Chronic Lymphocytic Leukemia Kolijn PM, Muggen AF, Ljungström V, Agathangelidis A, Wolvers-Tettero ILM, Beverloo HB, Pál K, Hengeveld PJ, Darzentas N, Hendriks RW, van Dongen JJM, Rosenquist R, Langerak AW. Front Oncol DOI
Prognostic and Predictive Implications of Cytogenetics and Genomics Ljungström V, Baliakas P. Hematol Oncol Clin North Am DOI

2020

Clonal hematopoiesis in patients with high-grade B-cell lymphoma is associated with inferior outcome Amini RM, Ljungström V, Abdulla M, Cavelier L, Pandzic T, Hollander P, Enblad G, Baliakas P. Am J Hematol DOI
Defining eligible patients for allele-selective chemotherapies targeting NAT2 in colorectal cancer Rendo V, Kundu S, Rameika N, Ljungström V, Svensson R, Palin K, Aaltonen L, Stoimenov I, Sjöblom T. Sci Rep DOI
Molecular characterization of a large unselected cohort of metastatic colorectal cancers in relation to primary tumor location, rare metastatic sites and prognosis Nunes L, Aasebø K, Mathot L, Ljungström V, Edqvist PH, Sundström M, Dragomir A, Pfeiffer P, Ameur A, Ponten F, Mezheyeuski A, Sorbye H, Sjöblom T, Glimelius B. Acta Oncol DOI
Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort Mathioudaki A, Ljungström V, Melin M, Arendt ML, Nordin J, Karlsson Å, Murén E, Saksena P, Meadows JRS, Marinescu VD, Sjöblom T, Lindblad-Toh K. Sci Rep DOI

2019

DNA methylation profiles in chronic lymphocytic leukemia patients treated with chemoimmunotherapy 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. Clin Epigenetics DOI

2018

Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations Agathangelidis A, Ljungström V, Scarfò L, Fazi C, Gounari M, Pandzic T, Sutton LA, Stamatopoulos K, Tonon G, Rosenquist R, Ghia P. Haematologica DOI
Not so lost in translation: RPS15 mutations in CLL Ljungström V, Rosenquist R. Blood DOI

2017

EGR2 mutations define a new clinically aggressive subgroup of chronic lymphocytic leukemia 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. Leukemia DOI
Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer Mathot L, Kundu S, Ljungström V, Svedlund J, Moens L, Adlerteg T, Falk-Sörqvist E, Rendo V, Bellomo C, Mayrhofer M, Cortina C, Sundström M, Micke P, Botling J, Isaksson A, Moustakas A, Batlle E, Birgisson H, Glimelius B, Nilsson M, Sjöblom T. Cancer Res DOI

2016

ATM mutations in major stereotyped subsets of chronic lymphocytic leukemia: enrichment in subset #2 is associated with markedly short telomeres 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. Haematologica DOI
Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma 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. Blood DOI
Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia Parker H, Rose-Zerilli MJ, Larrayoz M, Clifford R, Edelmann J, Blakemore S, Gibson J, Wang J, Ljungström 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, Rodríguez-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. Leukemia DOI
Prognostic impact of epigenetic classification in chronic lymphocytic leukemia: The case of subset #2 Bhoi S, Ljungström V, Baliakas P, Mattsson M, Smedby KE, Juliusson G, Rosenquist R, Mansouri L. Epigenetics DOI
Transposon Mutagenesis Reveals Fludarabine Resistance Mechanisms in Chronic Lymphocytic Leukemia Pandzic T, Larsson J, He L, Kundu S, Ban K, Akhtar-Ali M, Hellström AR, Schuh A, Clifford R, Blakemore SJ, Strefford JC, Baumann T, Lopez-Guillermo A, Campo E, Ljungström V, Mansouri L, Rosenquist R, Sjöblom T, Hellström M. Clin Cancer Res DOI
Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations 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. Blood DOI

2015

Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma Crona J, Ljungström V, Welin S, Walz MK, Hellman P, Björklund P. PLoS One DOI
Functional loss of IκBε leads to NF-κB deregulation in aggressive chronic lymphocytic leukemia Mansouri L, Sutton LA, Ljungström V, Bondza S, Arngården L, Bhoi S, Larsson J, Cortese D, Kalushkova A, Plevova K, Young E, Gunnarsson R, Falk-Sörqvist E, Lönn P, Muggen AF, Yan XJ, Sander B, Enblad G, Smedby KE, Juliusson G, Belessi C, Rung J, Chiorazzi N, Strefford JC, Langerak AW, Pospisilova S, Davi F, Hellström M, Jernberg-Wiklund H, Ghia P, Söderberg O, Stamatopoulos K, Nilsson M, Rosenquist R. J Exp Med DOI
Genetics and Prognostication in Splenic Marginal Zone Lymphoma: Revelations from Deep Sequencing Parry M, Rose-Zerilli MJ, Ljungström V, Gibson J, Wang J, Walewska R, Parker H, Parker A, Davis Z, Gardiner A, McIver-Brown N, Kalpadakis C, Xochelli A, Anagnostopoulos A, Fazi C, de Castro DG, Dearden C, Pratt G, Rosenquist R, Ashton-Key M, Forconi F, Collins A, Ghia P, Matutes E, Pangalis G, Stamatopoulos K, Oscier D, Strefford JC. Clin Cancer Res DOI
HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples Moens LN, Falk-Sörqvist E, Ljungström V, Mattsson J, Sundström M, La Fleur L, Mathot L, Micke P, Nilsson M, Botling J. J Mol Diagn DOI
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts Malcovati L, Karimi M, Papaemmanuil E, Ambaglio I, Jädersten M, Jansson M, Elena C, Gallì A, Walldin G, Della Porta MG, Raaschou-Jensen K, Travaglino E, Kallenbach K, Pietra D, Ljungström V, Conte S, Boveri E, Invernizzi R, Rosenquist R, Campbell PJ, Cazzola M, Hellström Lindberg E. Blood DOI
Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting Sutton LA, Ljungström V, Mansouri L, Young E, Cortese D, Navrkalova V, Malcikova J, Muggen AF, Trbusek M, Panagiotidis P, Davi F, Belessi C, Langerak AW, Ghia P, Pospisilova S, Stamatopoulos K, Rosenquist R. Haematologica DOI
Tumor vessel up-regulation of INSR revealed by single-cell expression analysis of the tyrosine kinome and phosphatome in human cancers Kiflemariam S, Ljungström V, Pontén F, Sjöblom T. Am J Pathol DOI

2014

Feasibility of targeted next-generation sequencing of the TP53 and ATM genes in chronic lymphocytic leukemia Mansouri L, Sutton LA, Ljungström V, Sörqvist EF, Gunnarsson R, Smedby KE, Juliusson G, Stamatopoulos K, Nilsson M, Rosenquist R. Leukemia DOI

2012

[Early bridge between preclinical and clinical research] Staaf J, Akerström T, Ljungström V, Larsson S, Karlsson T, Skogseid B, Bergsten P. Lakartidningen