Acute megakaryoblastic leukaemia shows high frequency of chromosome 1q aberrations and dismal outcome
© 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd..
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.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:202 |
|---|---|
| Enthalten in: |
British journal of haematology - 202(2023), 6 vom: 16. Sept., Seite 1165-1177 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Pastore, Friederike [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
AMKL |
|---|
| Anmerkungen: |
Date Completed 12.09.2023 Date Revised 20.09.2023 published: Print-Electronic ClinicalTrials.gov: NCT01382147 Citation Status MEDLINE |
|---|
| doi: |
10.1111/bjh.18982 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM35956030X |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM35956030X | ||
| 003 | DE-627 | ||
| 005 | 20231226081135.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1111/bjh.18982 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1198.xml |
| 035 | |a (DE-627)NLM35956030X | ||
| 035 | |a (NLM)37455345 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Pastore, Friederike |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Acute megakaryoblastic leukaemia shows high frequency of chromosome 1q aberrations and dismal outcome |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 12.09.2023 | ||
| 500 | |a Date Revised 20.09.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a ClinicalTrials.gov: NCT01382147 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2023 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a AMKL | |
| 650 | 4 | |a AML | |
| 650 | 4 | |a AML M7 | |
| 650 | 4 | |a allo-HSCT | |
| 650 | 4 | |a cytogenetic and molecular landscape | |
| 650 | 4 | |a prognosis | |
| 700 | 1 | |a Gittinger, Hanna |e verfasserin |4 aut | |
| 700 | 1 | |a Raab, Susanne |e verfasserin |4 aut | |
| 700 | 1 | |a Tschuri, Sebastian |e verfasserin |4 aut | |
| 700 | 1 | |a Ksienzyk, Bianka |e verfasserin |4 aut | |
| 700 | 1 | |a Konstandin, Nikola P |e verfasserin |4 aut | |
| 700 | 1 | |a Schneider, Stephanie |e verfasserin |4 aut | |
| 700 | 1 | |a Rothenberg-Thurley, Maja |e verfasserin |4 aut | |
| 700 | 1 | |a Horny, Hans-Peter |e verfasserin |4 aut | |
| 700 | 1 | |a Werner, Martin |e verfasserin |4 aut | |
| 700 | 1 | |a Sauerland, Maria C |e verfasserin |4 aut | |
| 700 | 1 | |a Amler, Susanne |e verfasserin |4 aut | |
| 700 | 1 | |a Görlich, Dennis |e verfasserin |4 aut | |
| 700 | 1 | |a Berdel, Wolfgang E |e verfasserin |4 aut | |
| 700 | 1 | |a Wörmann, Bernhard |e verfasserin |4 aut | |
| 700 | 1 | |a Braess, Jan |e verfasserin |4 aut | |
| 700 | 1 | |a Hiddemann, Wolfgang |e verfasserin |4 aut | |
| 700 | 1 | |a Tischer, Johanna |e verfasserin |4 aut | |
| 700 | 1 | |a Herold, Tobias |e verfasserin |4 aut | |
| 700 | 1 | |a Metzeler, Klaus H |e verfasserin |4 aut | |
| 700 | 1 | |a Spiekermann, Karsten |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t British journal of haematology |d 1955 |g 202(2023), 6 vom: 16. Sept., Seite 1165-1177 |w (DE-627)NLM000000396 |x 1365-2141 |7 nnns |
| 773 | 1 | 8 | |g volume:202 |g year:2023 |g number:6 |g day:16 |g month:09 |g pages:1165-1177 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1111/bjh.18982 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 202 |j 2023 |e 6 |b 16 |c 09 |h 1165-1177 | ||