一例血小板计数高且伴有t(3;8)(q26;q24)的骨髓增生异常综合征病例。

A case of myelodysplastic syndrome with high platelet counts and a t(3;8)(q26;q24).

作者信息

Mertens F, Johansson B, Billström R, Engquist L, Mitelman F

出版信息

Cancer Genet Cytogenet. 1987 Jul;27(1):1-4. doi: 10.1016/0165-4608(87)90251-2.

Abstract

A 62-year-old male patient with refractory anemia with excess of blasts had a t(3;8)(q26;q24) as an acquired chromosomal abnormality in the bone marrow. This aberration has not been previously reported as a sole anomaly in any type of neoplasm, including myelodysplastic or myeloproliferative disorders. The findings of disturbed thrombocytopoiesis with high platelet counts and micromegakaryocytes in the bone marrow support the idea that alteration of the transferrin receptor gene, localized to 3q26, may be of pathogenetic significance.

摘要

一名62岁的难治性贫血伴原始细胞增多症男性患者，其骨髓中出现了t(3;8)(q26;q24)作为获得性染色体异常。这种畸变此前尚未在任何类型的肿瘤中，包括骨髓增生异常综合征或骨髓增殖性疾病中，作为唯一异常被报道过。骨髓中血小板生成紊乱、血小板计数升高以及出现微巨核细胞的发现支持了这样一种观点，即定位于3q26的转铁蛋白受体基因的改变可能具有致病意义。