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Am J Blood Res. 2018 Oct 05;8(3):17-20. eCollection 2018.

An isolated der(1;21)(q10;q10) translocation in a patient with myelodysplastic syndrome: a case report.

American journal of blood research

Masahiro Manabe, Gakuya Tamagaki, Keiji Shimizu, Koichi Michimoto, Yuuji Hagiwara, Reiko Asada, Dai Momose, Yasuyoshi Sugano, Takeshi Mazaki, Ki-Ryang Koh

Affiliations

  1. Osaka General Hospital of West Japan Railway Company 1-2-22 Matsuzaki-cho, Abeno-ku, Osaka 545-0053, Japan.

PMID: 30498621 PMCID: PMC6261837

Abstract

Whole-arm translocations are relatively rare among hematological malignancies. There are a few reports on myeloid malignancies harboring der(1;21)(q10;q10). A 65-year-old male was referred to our hospital due to squamous cell carcinoma of the lung. Pembrolizumab monotherapy resulted in progression, and so chemotherapy involving nab-paclitaxel and carboplatin was administered thereafter. The patient developed cytopenia, and his bone marrow exhibited dysplasia. Chromosomal analysis revealed a whole-arm translocation, der(1;21)(q10;q10). Thus, the patient was diagnosed with myelodysplastic syndrome. The der(1;21)(q10;q10) translocation is a rare variant of the der(1;7)(q10;p10) translocation, which is an adverse prognostic factor for myeloid neoplasms. Clarifying the clinical features of myeloid neoplasms in patients with der(1;21)(q10;q10) would facilitate the elucidation of their tumorigenic mechanisms.

Keywords: der(1;21)(q10;q10); myelodysplastic syndrome; whole-arm translocation

Conflict of interest statement

None.

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