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Pastore, F.* ; Gittinger, H.* ; Raab, S.* ; Tschuri, S.* ; Ksienzyk, B.* ; Konstandin, N.P.* ; Schneider, S.* ; Rothenberg-Thurley, M.* ; Horny, H.P.* ; Werner, M.* ; Sauerland, M.C.* ; Amler, S.* ; Görlich, D.* ; Berdel, W.E.* ; Wörmann, B.* ; Braess, J.* ; Hiddemann, W.* ; Tischer, J.* ; Herold, T. ; Metzeler, K.* ; Spiekermann, K.*

Acute megakaryoblastic leukaemia shows high frequency of chromosome 1q aberrations and dismal outcome.

Br. J. Haematol. 202, 1165-1177 (2023)
DOI PMC
Creative Commons Lizenzvertrag
Open Access Green as soon as Postprint is submitted to ZB.
Acute megakaryoblastic leukaemia (AMKL) is associated with poor prognosis. Limited information is available on its cytogenetics, molecular genetics and clinical outcome. We performed genetic analyses, evaluated prognostic factors and the value of allogeneic haematopoietic stem cell transplantation (allo-HSCT) in a homogenous adult AMKL patient cohort. We retrospectively analysed 38 adult patients with AMKL (median age: 58 years, range: 21-80). Most received intensive treatment in AML Cooperative Group (AMLCG) trials between 2001 and 2016. Cytogenetic data showed an accumulation of adverse risk markers according to ELN 2017 and an unexpected high frequency of structural aberrations on chromosome arm 1q (33%). Most frequently, mutations occurred in TET2 (23%), TP53 (23%), JAK2 (19%), PTPN11 (19%) and RUNX1 (15%). Complete remission rate in 33 patients receiving intensive chemotherapy was 33% and median overall survival (OS) was 33 weeks (95% CI: 21-45). Patients undergoing allo-HSCT (n = 14) had a superior median OS (68 weeks; 95% CI: 11-126) and relapse-free survival (RFS) of 27 weeks (95% CI: 4-50), although cumulative incidence of relapse after allo-HSCT was high (62%). The prognosis of AMKL is determined by adverse genetic risk factors and therapy resistance. So far allo-HSCT is the only potentially curative treatment option in this dismal AML subgroup.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Amkl ; Aml ; Aml M7 ; Allo-hsct ; Cytogenetic And Molecular Landscape ; Prognosis; Acute Megakaryocytic Leukemia; Acute Myeloid-leukemia; Bone-marrow Fibrosis; High-dose Cytarabine; Down-syndrome; Pediatric-patients; Induction; Adult; Aml; Childhood
ISSN (print) / ISBN 0007-1048
e-ISSN 1365-2141
Journal British Journal of Haematology
Quellenangaben Volume: 202, Issue: 6, Pages: 1165-1177 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place 111 River St, Hoboken 07030-5774, Nj Usa
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Research Unit Apoptosis in Hematopoietic Stem Cells (AHS)