论文信息 - Characterizing the Molecular Abnormalities in Rare De Novo Ph+ Acute Myeloid Leukemia

Characterizing the Molecular Abnormalities in Rare De Novo Ph+ Acute Myeloid Leukemia

To the Editor: The t(9;22)(q34;q11) (Philadelphia chromosome [Ph]) balanced translocation results in fusion of the BCR gene at 22q11 with cytoplasmic tyrosine kinase gene ABL1 and plays an essential role in leukemic transformation. The Ph is an infrequent finding in de novo acute myeloid leukemia (AML), approximately 0.5–3% of newly diagnosed patients.[1] The World Health Organization (WHO) recently released a revised version of the Classification of Hematopoietic and Lymphoid Malignancies, a new provisional category of AML with BCR-ABL1 was added to recognize these rare Ph+ AML cases that could benefit from tyrosine‐kinase inhibitor (TKI) therapy.[2] It is required to enlarge the sample size and research the molecular or genomic features to increase the argument in favor of Ph+ AML as a real entity.

[1] O. Abdel-Wahab,et al. Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia , 2016, Leukemia.

[2] M. Konopleva,et al. Molecular characterization of de novo Philadelphia chromosome-positive acute myeloid leukemia , 2012, Leukemia & lymphoma.

[3] M. Pettenati,et al. Philadelphia chromosome positive myelodysplastic syndrome and acute myeloid leukemia-retrospective study and review of literature. , 2004, Leukemia research.

[4] H. Kestler,et al. RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features , 2016, Leukemia.