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Peer-reviewedCC BY-NC-NDInternal Medicine

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

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.

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BibTeX
@article{sakai2026evaluation,
  title = {{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}},
  author = {Hirotaka Sakai and Ikuo Miura and Ayako Arai},
  journal = {Internal Medicine},
  year = {2026},
  month = sep,
  doi = {10.2169/internalmedicine.7790-26},
  url = {https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7790-26/_article},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - 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
AU  - Hirotaka Sakai
AU  - Ikuo Miura
AU  - Ayako Arai
PY  - 2026
DA  - 2026/09/01
JO  - Internal Medicine
DO  - 10.2169/internalmedicine.7790-26
UR  - https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7790-26/_article
AB  - 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.
SN  - 1349-7235
SN  - 0918-2918
ER  -