scholarly journals Mixed‐phenotype acute leukemia with a predominant B/T and a small subset of myeloid lineage expression

eJHaem ◽  
2020 ◽  
Vol 1 (2) ◽  
pp. 402-403
Author(s):  
Maryam Pourabdollah ◽  
Entsar Eladl ◽  
Aijun Liu ◽  
Hong Chang
Keyword(s):  
Acute Leukemia ◽  
Small Subset ◽  
Myeloid Lineage ◽  
Mixed Phenotype Acute Leukemia ◽  
Mixed Phenotype

scholarly journals PHF6 and DNMT3A mutations are enriched in distinct subgroups of mixed phenotype acute leukemia with T-lineage differentiation

2018 ◽  
Vol 2 (23) ◽  
pp. 3526-3539 ◽  
Author(s):  
Wenbin Xiao ◽  
Maheetha Bharadwaj ◽  
Max Levine ◽  
Noushin Farnoud ◽  
Friederike Pastore ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Cancer Center ◽  
Small Subset ◽  
Lineage Differentiation ◽  
Recurrent Mutations ◽  
Mixed Phenotype Acute Leukemia ◽  
Sequencing Studies ◽  
Bona Fide ◽  
B Lineage ◽  
Mixed Phenotype

Abstract The genetic aberrations that drive mixed phenotype acute leukemia (MPAL) remain largely unknown, with the exception of a small subset of MPALs harboring BCR-ABL1 and MLL translocations. We performed clinicopathologic and genetic evaluation of 52 presumptive MPAL cases at Memorial Sloan Kettering Cancer Center. Only 29 out of 52 (56%) cases were confirmed to be bona fide MPAL according to the 2016 World Heath Organization classification. We identified PHF6 and DNMT3A mutations as the most common recurrent mutations in MPAL, each occurring in 6 out of 26 (23%) cases. These mutations are mutually exclusive of each other and BCR-ABL1/MLL translocations. PHF6- and DNMT3A-mutated MPAL showed marked predilection for T-lineage differentiation (5/6 PHF6 mutated, 6/6 DNMT3A mutated). PHF6-mutated MPAL occurred in a younger patient cohort compared with DNMT3A-mutated cases (median age, 27 years vs 61 years, P < .01). All 3 MPAL cases with both T- and B-lineage differentiation harbored PHF6 mutations. MPAL with T-lineage differentiation was associated with nodal or extramedullary involvement (9/15 [60%] vs 0, P = .001) and a higher relapse incidence (78% vs 22%, P = .017) compared with those without T-lineage differentiation. Sequencing studies on flow-cytometry–sorted populations demonstrated that PHF6 mutations are present in all blast compartments regardless of lineage differentiation with high variant allele frequency, implicating PHF6 as an early mutation in MPAL pathogenesis. In conclusion, PHF6 and DNMT3A mutations are the most common somatic alterations identified in MPAL and appear to define 2 distinct subgroups of MPAL with T-lineage differentiation with inferior outcomes.

scholarly journals Mixed Phenotype Acute Leukemia that Evolved from Myelodysplastic Syndrome with Excess Blasts

2019 ◽  
Vol 51 (3) ◽  
pp. 288-295
Author(s):  
Miyoung Kim ◽  
Dae Young Zang ◽  
Jiwon Lee ◽  
Ji-Young Park ◽  
Yousun Chung ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Myelodysplastic Syndrome ◽  
Female Patient ◽  
Diagnostic Category ◽  
Myeloid Lineage ◽  
Myeloid Antigens ◽  
Mixed Phenotype Acute Leukemia ◽  
B Lymphoid ◽  
Mixed Phenotype ◽  
Biphenotypic Acute Leukemia

Abstract Myelodysplastic syndrome (MDS) that evolves into acute leukemia with blasts of mixed phenotypes has rarely been reported and has no distinct diagnostic category. Herein, we describe a 79-year-old Korean female patient with MDS–excess blasts (MDS-EB) that evolved into acute leukemia; the blasts simultaneously expressed B-lymphoid and myeloid antigens. The patient was diagnosed with MDS-EB with blasts of myeloid lineage coexpressing a few B-lymphoid antigens with 7q and 20q abnormalities. The disease progressed to acute leukemia with blasts carrying more B-lymphoid antigens, which was immunophenotypically compatible with B-lymphoid/myeloid acute leukemia. Unlike previously reported patients whose blast populations are bilineal, our patient is the first with biphenotypic acute leukemia that progressed from MDS. The diagnosis of our patient introduces the possibility that many other types of biphenotypic acute leukemia may have gone undiagnosed and encourages hematologists to designate a specific diagnostic category for this type of disease, so that it can more readily be detected and studied in the future.

scholarly journals Correction to: Mixed-phenotype acute leukemia characteristics: first report from Iran

2021 ◽  
Author(s):  
Behzad Poopak ◽  
Adnan Khosravi ◽  
Gholamreza Bahoush-Mehdiabadi ◽  
Tahereh Madani ◽  
Elahe Khodadi ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
First Report ◽  
Mixed Phenotype Acute Leukemia ◽  
Mixed Phenotype

scholarly journals Genomic characterization of chromosome translocations in patients with T/myeloid mixed-phenotype acute leukemia

2017 ◽  
Vol 59 (5) ◽  
pp. 1231-1238 ◽  
Author(s):  
Aparna Pallavajjala ◽  
Daehwan Kim ◽  
Tongbin Li ◽  
Gabriel Ghiaur ◽  
Richard J. Jones ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Chromosome Translocations ◽  
Mixed Phenotype Acute Leukemia ◽  
Genomic Characterization ◽  
Mixed Phenotype

scholarly journals Philadelphia-positive mixed phenotype acute leukemia presenting with PML-RARα fusion transcript without t(15;17) on cytogenetic studies

2018 ◽  
Vol 53 (3) ◽  
pp. 256 ◽  
Author(s):  
Seok Jae Huh ◽  
Sung-Hyun Kim ◽  
Hyo-Jin Kim ◽  
Jin Yeong Han ◽  
Hyeonho Lim ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Fusion Transcript ◽  
Cytogenetic Studies ◽  
Mixed Phenotype Acute Leukemia ◽  
Mixed Phenotype

scholarly journals Lineage switch from acute myeloid leukemia to T cell/myeloid mixed phenotype acute leukemia: First report of an adult case

2018 ◽  
Vol 93 (12) ◽  
pp. E395-E397 ◽  
Author(s):  
Brian P. Hanley ◽  
Eva Yebra-Fernandez ◽  
Renuka Palanicawandar ◽  
Eduardo Olavarria ◽  
Kikkeri N. Naresh
Keyword(s):  
Acute Myeloid Leukemia ◽  
T Cell ◽  
Acute Leukemia ◽  
Myeloid Leukemia ◽  
Adult Case ◽  
First Report ◽  
Lineage Switch ◽  
Mixed Phenotype Acute Leukemia ◽  
Mixed Phenotype ◽  
Acute Myeloid
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