Publications
Representative recent publications of SWG members:
- A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J.
Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16. PubMed PMID: 29146883 - Clonal evolution in myelodysplastic syndromes.
Da Silva-Coelho P, Kroeze LI, Yoshida K, Koorenhof-Scheele TN, Knops R, van de Locht LT, de Graaf AO, Massop M, Sandmann S, Dugas M, Stevens-Kroef MJ, Cermak J, Shiraishi Y, Chiba K, Tanaka H, Miyano S, de Witte T, Blijlevens NMA, Muus P, Huls G, van der Reijden BA, Ogawa S, Jansen JH.
Nat Commun. 2017 Apr 21;8:15099. doi: 10.1038/ncomms15099. PubMed PMID: 28429724; PubMed Central PMCID: PMC5530598 - Turning the tide in myelodysplastic/myeloproliferative neoplasms.
Deininger MWN, Tyner JW, Solary E.
Nat Rev Cancer. 2017 Jun 23;17(7):425-440. doi: 10.1038/nrc.2017.40. Review. PubMed PMID: 28642604 - Decision analysis of allogeneic hematopoietic stem cell transplantation for patients with myelodysplastic syndrome stratified according to the revised International Prognostic Scoring System.
Della Porta MG, Jackson CH, Alessandrino EP, Rossi M, Bacigalupo A, van Lint MT, Bernardi M, Allione B, Bosi A, Guidi S, Santini V, Malcovati L, Ubezio M, Milanesi C, Todisco E, Voso MT, Musto P, Onida F, Iori AP, Cerretti R, Grillo G, Molteni A, Pioltelli P, Borin L, Angelucci E, Oldani E, Sica S, Pascutto C, Ferretti V, Santoro A, Bonifazi F, Cazzola M, Rambaldi A.
Leukemia. 2017 Nov;31(11):2449-2457. doi: 10.1038/leu.2017.88. Epub 2017 Mar 21. PubMed PMID: 28321120 - Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.
Döhner H, Estey E, Grimwade D, Amadori S, Appelbaum FR, Büchner T, Dombret H, Ebert BL, Fenaux P, Larson RA, Levine RL, Lo-Coco F, Naoe T, Niederwieser D, Ossenkoppele GJ, Sanz M, Sierra J, Tallman MS, Tien HF, Wei AH, Löwenberg B, Bloomfield CD.
Blood. 2017 Jan 26;129(4):424-447. doi: 10.1182/blood-2016-08-733196. Epub 2016 Nov 28. Review. PubMed PMID: 27895058; PubMed Central PMCID: PMC5291965 - Precision oncology for acute myeloid leukemia using a knowledge bank approach.
Gerstung M, Papaemmanuil E, Martincorena I, Bullinger L, Gaidzik VI, Paschka P, Heuser M, Thol F, Bolli N, Ganly P, Ganser A, McDermott U, Döhner K, Schlenk RF, Döhner H, Campbell PJ.
Nat Genet. 2017 Mar;49(3):332-340. doi: 10.1038/ng.3756. Epub 2017 Jan 16. PubMed PMID: 28092685; PubMed Central PMCID: PMC5764082 - MIPSS70: Mutation-Enhanced International Prognostic Score System for Transplantation-Age Patients With Primary Myelofibrosis. Guglielmelli P, Lasho TL, Rotunno G, Mudireddy M, Mannarelli C, Nicolosi M, Pacilli A, Pardanani A, Rumi E, Rosti V, Hanson CA, Mannelli F, Ketterling RP, Gangat N, Rambaldi A, Passamonti F, Barosi G, Barbui T, Cazzola M, Vannucchi AM, Tefferi A.
J Clin Oncol. 2018 Feb 1;36(4):310-318. doi: 10.1200/JCO.2017.76.4886. Epub 2017 Dec 9. PubMed PMID: 29226763 - Guidelines for diagnosis, indications for treatment, response assessment and supportive management of chronic lymphocytic leukemia.
Hallek M, Cheson BD, Catovsky D, Caligaris-Cappio F, Dighiero G, Döhner H, Hillmen P, Keating M, Montserrat E, Chiorazzi N, Stilgenbauer S, Rai KR, Byrd JC, Eichhorst B, O'Brien S, Robak T, Seymour JF, Kipps TJ.
Blood. 2018 Mar 14. pii: blood-2017-09-806398. doi: 10.1182/blood-2017-09-806398. [Epub ahead of print] PubMed PMID: 29540348 - Long-Term Outcomes of Imatinib Treatment for Chronic Myeloid Leukemia.
Hochhaus A, Larson RA, Guilhot F, Radich JP, Branford S, Hughes TP, Baccarani M, Deininger MW, Cervantes F, Fujihara S, Ortmann CE, Menssen HD, Kantarjian H, O'Brien SG, Druker BJ; IRIS Investigators.
N Engl J Med. 2017 Mar 9;376(10):917-927. doi: 10.1056/NEJMoa1609324. PubMed PMID: 28273028 - Minimal residual disease (MRD) monitoring and mutational landscape in AML with RUNX1-RUNX1T1: a study on 134 patients.
Höllein A, Jeromin S, Meggendorfer M, Fasan A, Nadarajah N, Kern W, Haferlach C, Haferlach T.
Leukemia. 2018 Mar 6. doi: 10.1038/s41375-018-0086-0. [Epub ahead of print] PubMed PMID: 29568097 - Growth Differentiation Factor 15 Is a New Biomarker for Survival and Renal Outcomes in Light Chain (AL) Amyloidosis.
Kastritis E, Papassotiriou I, Merlini G, Milani P, Terpos E, Basset M, Akalestos A, Russo F, Psimenou E, Apostolakou F, Roussou M, Gavriatopoulou M, Eleutherakis Papaiakovou E, Fotiou D, Ziogas DC, Papadopoulou E, Pamboucas C, Dimopoulos MA, Palladini G.
Blood. 2018 Jan 31. pii: blood-2017-12-819904. doi: 10.1182/blood-2017-12-819904. [Epub ahead of print] PubMed PMID: 29386197 - HOX gene expression predicts response to BCL-2 inhibition in acute myeloid leukemia.
Kontro M, Kumar A, Majumder MM, Eldfors S, Parsons A, Pemovska T, Saarela J, Yadav B, Malani D, Fløisand Y, Höglund M, Remes K, Gjertsen BT, Kallioniemi O, Wennerberg K, Heckman CA, Porkka K.
Leukemia. 2017 Feb;31(2):301-309. doi: 10.1038/leu.2016.222. Epub 2016 Aug 8. PubMed PMID: 27499136 - ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-update on methodological approaches and results interpretation.
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.
Leukemia. 2018 Feb 2. doi: 10.1038/s41375-017-0007-7. [Epub ahead of print] Review. PubMed PMID: 29467486 - Clinical significance of somatic mutation in unexplained blood cytopenia.
Malcovati L, Gallì A, Travaglino E, Ambaglio I, Rizzo E, Molteni E, Elena C, Ferretti VV, Catricalà S, Bono E, Todisco G, Bianchessi A, Rumi E, Zibellini S, Pietra D, Boveri E, Camaschella C, Toniolo D, Papaemmanuil E, Ogawa S, Cazzola M.
Blood. 2017 Jun 22;129(25):3371-3378. doi: 10.1182/blood-2017-01-763425. Epub 2017 Apr 19. PubMed PMID: 28424163; PubMed Central PMCID: PMC5542849 - Daratumumab plus Bortezomib, Melphalan, and Prednisone for Untreated Myeloma.
Mateos MV, Dimopoulos MA, Cavo M, Suzuki K, Jakubowiak A, Knop S, Doyen C, Lucio P, Nagy Z, Kaplan P, Pour L, Cook M, Grosicki S, Crepaldi A, Liberati AM, Campbell P, Shelekhova T, Yoon SS, Iosava G, Fujisaki T, Garg M, Chiu C, Wang J, Carson R, Crist W, Deraedt W, Nguyen H, Qi M, San-Miguel J; ALCYONE Trial Investigators.
N Engl J Med. 2018 Feb 8;378(6):518-528. doi: 10.1056/NEJMoa1714678. Epub 2017 Dec 12. PubMed PMID: 29231133 - SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells.
Mortera-Blanco T, Dimitriou M, Woll PS, Karimi M, Elvarsdottir E, Conte S, Tobiasson M, Jansson M, Douagi I, Moarii M, Saft L, Papaemmanuil E, Jacobsen SEW, Hellström-Lindberg E.
Blood. 2017 Aug 17;130(7):881-890. doi: 10.1182/blood-2017-03-776070. Epub 2017 Jun 20. PubMed PMID: 28634182; PubMed Central PMCID: PMC5572789 - Recurrently affected genes in juvenile myelomonocytic leukaemia.
Obenauer JC, Kavelaars FG, Sanders MA, de Vries ACH, de Haas V, Beverloo HB, De Moerloose B, Lammens T, Dworzak M, Hoogenboezem RM, Valk PJM, Touw IP, van den Heuvel-Eibrink MM.
Br J Haematol. 2017 May 9. doi: 10.1111/bjh.14737. [Epub ahead of print] PubMed PMID: 28485469 - Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down syndrome.
Schwartzman O, Savino AM, Gombert M, Palmi C, Cario G, Schrappe M, Eckert C, von Stackelberg A, Huang JY, Hameiri-Grossman M, Avigad S, Te Kronnie G, Geron I, Birger Y, Rein A, Zarfati G, Fischer U, Mukamel Z, Stanulla M, Biondi A, Cazzaniga G, Vetere A, Wagner BK, Chen Z, Chen SJ, Tanay A, Borkhardt A, Izraeli S.
Proc Natl Acad Sci U S A. 2017 May 16;114(20):E4030-E4039. doi: 10.1073/pnas.1702489114. Epub 2017 May 1. PubMed PMID: 28461505; PubMed Central PMCID: PMC5441776 - Gene expression and risk of leukemic transformation in myelodysplasia.
Shiozawa Y, Malcovati L, Gallì A, Pellagatti A, Karimi M, Sato-Otsubo A, Sato Y, Suzuki H, Yoshizato T, Yoshida K, Shiraishi Y, Chiba K, Makishima H, Boultwood J, Hellström-Lindberg E, Miyano S, Cazzola M, Ogawa S.
Blood. 2017 Dec 14;130(24):2642-2653. doi: 10.1182/blood-2017-05-783050. Epub 2017 Nov 2. PubMed PMID: 29097382 - Tracing the origins of relapse in acute myeloid leukaemia to stem cells.
Shlush LI, Mitchell A, Heisler L, Abelson S, Ng SWK, Trotman-Grant A, Medeiros JJF, Rao-Bhatia A, Jaciw-Zurakowsky I, Marke R, McLeod JL, Doedens M, Bader G, Voisin V, Xu C, McPherson JD, Hudson TJ, Wang JCY, Minden MD, Dick JE.
Nature. 2017 Jul 6;547(7661):104-108. doi: 10.1038/nature22993. Epub 2017 Jun 28. PubMed PMID: 28658204 - Circulating tumor DNA reveals genetics, clonal evolution and residual disease in classical Hodgkin lymphoma.
Spina V, Bruscaggin A, Cuccaro A, Martini M, Di Trani M, Forestieri G, Manzoni M, Condoluci A, Arribas A, Terzi-Di-Bergamo L, Locatelli SL, Cupelli E, Ceriani L, Moccia AA, Stathis A, Nassi L, Deambrogi C, Diop F, Guidetti F, Cocomazzi A, Annunziata S, Rufini V, Giordano A, Neri A, Boldorini R, Gerber B, Bertoni F, Ghielmini M, Stüssi G, Santoro A, Cavalli F, Zucca E, Larocca LM, Gaidano G, Hohaus S, Carlo-Stella C, Rossi D.
Blood. 2018 Feb 15. pii: blood-2017-11-812073. doi: 10.1182/blood-2017-11-812073. [Epub ahead of print] PubMed PMID: 29449275 - Midostaurin plus Chemotherapy for Acute Myeloid Leukemia with a FLT3 Mutation.
Stone RM, Mandrekar SJ, Sanford BL, Laumann K, Geyer S, Bloomfield CD, Thiede C, Prior TW, Döhner K, Marcucci G, Lo-Coco F, Klisovic RB, Wei A, Sierra J, Sanz MA, Brandwein JM, de Witte T, Niederwieser D, Appelbaum FR, Medeiros BC, Tallman MS, Krauter J, Schlenk RF, Ganser A, Serve H, Ehninger G, Amadori S, Larson RA, Döhner H.
N Engl J Med. 2017 Aug 3;377(5):454-464. doi: 10.1056/NEJMoa1614359. Epub 2017 Jun 23. PubMed PMID: 28644114; PubMed Central PMCID: PMC5754190 - A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.
Zmajkovic J, Lundberg P, Nienhold R, Torgersen ML, Sundan A, Waage A, Skoda RC.
N Engl J Med. 2018 Mar 8;378(10):924-930. doi: 10.1056/NEJMoa1709064. PubMed PMID: 29514032