Mixed phenotype acute leukemia contains heterogeneous genetic mutations by next-generation sequencing

Oncotarget
Andrés E QuesadaChi Young Ok

Abstract

Mixed phenotype acute leukemia (MPAL) is an uncommon manifestation of acute leukemia. The aim of this study is to further characterize the genetic landscape ofde novocases of MPAL that fulfill the 2016 World Health Organization (WHO) classification criteria for this entity. We identified 14 cases examined by next generation sequencing (NGS) using 28 (n =10), 53 (n =3) or 81 (n =1) gene panels: 7 cases with a B-cell/myeloid (B/My) immunophenotype, 6 T-cell/myeloid (T/My) immunophenotype, and 1 B-cell/T-cell (B/T) immunophenotype. A total of 25 distinct mutations were identified in 15 different genes in 9/14 (64%) patients.FLT3-ITD was the only recurrent mutation in 2 patients. B/My MPAL cases less commonly harbored mutations compared with T/My MPAL cases (43% vs. 100%,p= 0.07). In contrast, B/My MPALs more commonly showed a complex karyotype compared to T/My MPALs (71% vs. 17%,p= 0.1). With NGS and karyotype combined, most (93%) MPAL cases had mutations or cytogenetic abnormalities. With a median follow-up of 12.5 months, there were no significant differences in median overall survival (OS) between patients with B/My or T/My MPAL (17.8 and 6.5 months, respectively,p= 0.81) or between patients with MPAL with versus without gene m...Continue Reading

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Citations

Apr 24, 2019·Leukemia & Lymphoma·Eran TallisNaveen Pemmaraju
Apr 30, 2019·Cytometry. Part B, Clinical Cytometry·Anna Porwit, Marie C Béné
Mar 4, 2020·American Journal of Hematology·Sanjay S Patel, Olga K Weinberg
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Sep 21, 2021·Frontiers in Oncology·Gabriele MeratiPatrizia Zappasodi

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Methods Mentioned

BETA
chromosomal aberration
cytogenetic aberrations
exome sequencing
chromosomal aberrations
PCR
electrophoresis

Software Mentioned

GraphPad Prism
MPAL

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