Distinct karyotypic and mutational landscape in trisomy <scp>AML</scp>-Reference-Cited by-同舟云学术

Distinct karyotypic and mutational landscape in trisomy AML

Published:2023-12-06 Issue: Volume: Page:
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Lam Stephen S. Y.¹^ORCID,Tsui Sze P.¹²,Fung C. Y.¹,Saw Nicole Y.³,Javed Asif³,Ip Alvin H. W.²,Ma Edmond S. K.⁴^ORCID,Leung Anskar Y. H.¹⁵⁶^ORCID

Affiliation:

1. Division of Haematology, Department of Medicine, LKS Faculty of Medicine The University of Hong Kong Hong Kong SAR China

2. Department of Pathology Queen Mary Hospital Hong Kong SAR China

3. School of Biomedical Sciences, LKS Faculty of Medicine The University of Hong Kong Hong Kong SAR China

4. Division of Molecular Pathology, Department of Pathology Hong Kong Sanitorium & Hospital Hong Kong SAR China

5. The Jockey Club Centre for Clinical Innovation and Discovery, LKS Faculty of Medicine The University of Hong Kong Hong Kong SAR China

6. Centre for Oncology and Immunology, Hong Kong Science Park Hong Kong SAR China

Abstract

SummaryTrisomy karyotype occurs in 5%–10% of AML. Its mutational landscape and prognostic significance are not well defined. A cohort of 156 trisomy AML patients was analysed, with reference to 615 cytogenetically normal (CN) AML patients. Trisomy AML showed distinct mutational landscape with more prevalent SMC1A, N/KRAS, ASXL1 and BCOR but fewer CEBPAbZIP and NPM1 mutations in patients ≤60, and fewer NPM1 mutations in those >60. NRAS mutations were associated with poor outcome in trisomy AML, whereas DNMT3A and FLT3‐ITD mutations had neutral effect. Trisomy AML appeared biologically distinct from CN‐AML.

Funder

Croucher Foundation

Li Shu Fan Medical Foundation

Publisher

Wiley

Subject

Hematology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjh.19249

Reference15 articles.

1. Redefining prognostication of de novo cytogenetically normal acute myeloid leukemia in young adults

2. Next-generation sequencing with a myeloid gene panel in core-binding factor AML showed KIT activation loop and TET2 mutations predictive of outcome

3. Distinct mutation spectrum, clinical outcome and therapeutic responses of typical complex/monosomy karyotype acute myeloid leukemia carryingTP53mutations

4. TP53 mutation defines a unique subgroup within complex karyotype de novo and therapy-related MDS/AML

5. Incidence and prognostic significance of isolated trisomies in adult acute myeloid leukemia: A population-based study from the Swedish AML registry