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Review
. 2023;64(12):1519-1522.
doi: 10.11406/rinketsu.64.1519.

[Characteristics of myelodysplastic syndromes with der(1;7)(q10;p10)]

[Article in Japanese]
Rurika Okuda  1
Affiliations
Review

[Characteristics of myelodysplastic syndromes with der(1;7)(q10;p10)]

[Article in Japanese]
Rurika Okuda. Rinsho Ketsueki. 2023.

Abstract

der(1;7)(q10;p10) is a derivative chromosome generated by an unbalanced translocation between chromosomes 1 and 7 during DNA replication. It was first described in 1980, over 40 years ago, in a case report of three patients with myelofibrosis and myeloid metaplasia. This unbalanced translocation has been identified as a characteristic entity within myeloid neoplasms. Recent clinical and genetic studies comparing der(1;7)(q10;p10)(+) against -7/del(7q) have revealed that patients with der(1;7)(q10;p10)(+) MDS have a better prognosis and a unique mutational profile. This review discusses the clinical and genetic features of der(1;7)(q10;p10)(+) myeloid neoplasms.

Keywords: Myelodysplastic syndromes; der(1;7)(q10;p10).

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