scholarly journals Mixed phenotype acute leukaemia with predominant myeloid blasts and a small subset of B/myeloid blasts shares the same mutation profile

2019 ◽  
Vol 188 (4) ◽  
Author(s):  
Mario Capitano ◽  
Jose‐Mario Capo‐Chichi ◽  
Mark D. Minden ◽  
Hong Chang
eJHaem ◽  
2020 ◽  
Vol 1 (2) ◽  
pp. 402-403
Author(s):  
Maryam Pourabdollah ◽  
Entsar Eladl ◽  
Aijun Liu ◽  
Hong Chang

Pathology ◽  
2014 ◽  
Vol 46 (3) ◽  
pp. 244-246 ◽  
Author(s):  
Victoria Y. Ling ◽  
Meaghan Wall ◽  
Amanda Davis ◽  
Malgorzata Gorniak ◽  
George Grigoriadis

2010 ◽  
Vol 149 (1) ◽  
pp. 2-2
Author(s):  
Min Shi ◽  
Fang Cui ◽  
Bo Li ◽  
Shun-Yi Li ◽  
Hui-Jie Ma

2017 ◽  
Vol 180 (2) ◽  
pp. 175-175 ◽  
Author(s):  
Yu Aruga ◽  
Ayumu Arakawa ◽  
Kouji Ono ◽  
Chitose Ogawa ◽  
Hiromichi Matsushita

2018 ◽  
Vol 184 (5) ◽  
pp. 708-708
Author(s):  
Samia Kabbage ◽  
Roberto Cupaiolo ◽  
Laurence Rozen ◽  
Anne Demulder

2018 ◽  
Vol 2 (23) ◽  
pp. 3526-3539 ◽  
Author(s):  
Wenbin Xiao ◽  
Maheetha Bharadwaj ◽  
Max Levine ◽  
Noushin Farnoud ◽  
Friederike Pastore ◽  
...  

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.


Author(s):  
Jack Bartram ◽  
Milena Balasch‐Carulla ◽  
Shashank Bhojaraja ◽  
Stuart Adams ◽  
Danny Cheng ◽  
...  

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