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Journal of Medical Case Reports
Published in: Journal of Medical Case Reports 1/2021

Open Access 01-12-2021 | Chronic Myeloid Leukemia | Case report

A unique three-way Philadelphia chromosome variant t(4;9;22)(q21;q34;q11.2) in a newly diagnosed patient with chronic phase chronic myeloid leukemia: a case report and review of the literature

Authors: Yuka Torii, Kana Nanjo, Tomomi Toubai, Masashi Hosokawa, Ryo Sato, Akane Yamada, Keiko Aizawa, Masahito Himuro, Satoshi Ito, Masakazu Yamamoto, John Magenau, Ryan Wilcox, Kenichi Ishizawa

Published in: Journal of Medical Case Reports | Issue 1/2021

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Abstract

Background

Chronic myeloid leukemia is a hematologic malignancy associated with the fusion of two genes: BCR and ABL1. This fusion results from a translocation between chromosomes 9 and 22, which is called the Philadelphia chromosome. Although the Philadelphia chromosome is present in more than 90% of patients with chronic myeloid leukemia, 5–8% of patients with chronic myeloid leukemia show complex variant translocations. Herein, we report a unique case of a three-way translocation variant in chronic phase chronic myeloid leukemia.

Case presentation

A 40-year-old Asian male who presented with leukocytosis was diagnosed with chronic phase chronic myeloid leukemia. Cytogenetic karyotyping analysis showed 46,XY,t(4;9;22)(q21;q34;q11.2). He was treated with bosutinib and then changed to dasatinib because of intolerance, and MR4.5 (BCR-ABL/ABL ≦ 0.0032%, international scale) was achieved after 17 months of continuous treatment.

Conclusion

This was the 14th case of t(4;9;22), in particular, a new variant Ph translocation involved in chromosome 4q21 and the first successful case treated with tyrosine kinase inhibitors in the world. We summarize previous case reports regarding three-way variant chromosome translocation, t(4;9;22) and discuss how this rare translocation is linked to prognosis.
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Metadata
Title
A unique three-way Philadelphia chromosome variant t(4;9;22)(q21;q34;q11.2) in a newly diagnosed patient with chronic phase chronic myeloid leukemia: a case report and review of the literature
Authors
Yuka Torii
Kana Nanjo
Tomomi Toubai
Masashi Hosokawa
Ryo Sato
Akane Yamada
Keiko Aizawa
Masahito Himuro
Satoshi Ito
Masakazu Yamamoto
John Magenau
Ryan Wilcox
Kenichi Ishizawa
Publication date
01-12-2021
Publisher
BioMed Central
Published in
Journal of Medical Case Reports / Issue 1/2021
Electronic ISSN: 1752-1947
DOI
https://doi.org/10.1186/s13256-021-02885-4

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