Evaluation of BCR::ABL1 Positivity in Peripheral Blood Neutrophils Enables the Diagnosis of De Novo Blast Phase Chronic Myeloid Leukemia with Additional Structural Abnormalities of the Philadelphia Chromosome.

Authors

Hirotaka Sakai, Ikuo Miura, Ayako Arai

Published in

Internal medicine (Tokyo, Japan). Sep 01, 2026. Epub Sep 01, 2026.

Abstract

A 60-year-old man with no history of hematologic disease presented with leukocytosis and thrombocytopenia. A bone marrow (BM) examination revealed 85.0% blasts with a B/myeloid immunophenotype and a complex Philadelphia (Ph) chromosome-positive karyotype: 46,XY,t(9;22)(q34;q11.2)[3]/45,XY,der(9)t(9;22),add(19)(p13),-22[17]. Fluorescence in situ hybridization detected single (6%) or duplicated (92%) BCR::ABL1 signals in bone marrow (BM) blasts but only single BCR::ABL1 signals (95%) in peripheral blood (PB) neutrophils. These findings indicate that the duplicated-signal blasts arrested their differentiation, while single-signal blasts retained differentiation potential, supporting a diagnosis of de novo blast phase chronic myeloid leukemia. An evaluation of BCR::ABL1 positivity in PB neutrophils provides valuable diagnostic insights into Philadelphia chromosome-positive leukemias.

PMID:
42686570
Bibliographic data and abstract were imported from PubMed on 03 Sep 2026.

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