克氏综合征患者伴血小板增多的骨髓增生异常综合征

Myelodysplastic syndrome with thrombocytosis in a patient with Klinefelter's syndrome.

作者信息

Yamauchi K

机构信息

Department of Internal Medicine, Tokai University School of Medicine, Tokyo, Japan.

出版信息

Acta Haematol. 1993;89(1):43-5. doi: 10.1159/000204482.

DOI:10.1159/000204482

Abstract

We report herein a patient with Klinefelter's syndrome associated with refractory anemia with excess of blasts in transformation, a subtype of myelodysplastic syndrome (MDS). The MDS developed with karyotypic abnormality involving t(4;7)(q21;q11), and was characteristic of marked thrombocytosis and marrow infiltration by many atypical megakaryocytes. The patient also had diabetes mellitus and a disturbed immune system. To our knowledge, this is the fifth reported case of MDS in patients with Klinefelter's syndrome in the literature.

摘要

我们在此报告一名患有克兰费尔特综合征的患者，该患者伴有转化型难治性贫血伴原始细胞增多，这是骨髓增生异常综合征（MDS）的一种亚型。MDS伴有涉及t(4;7)(q21;q11)的核型异常，其特征为显著的血小板增多以及许多非典型巨核细胞的骨髓浸润。该患者还患有糖尿病和免疫系统紊乱。据我们所知，这是文献中报道的第五例克兰费尔特综合征患者并发MDS的病例。

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引用本文的文献

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Role of loss and skew of X chromosome inactivation for developing myelodysplastic syndrome in patients with Klinefelter syndrome: A brief review of the literature.X染色体失活缺失和偏斜在克兰费尔特综合征患者发生骨髓增生异常综合征中的作用：文献综述

Leuk Res Rep. 2023 Nov 15;20:100396. doi: 10.1016/j.lrr.2023.100396. eCollection 2023.

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Cancer incidence in men with Klinefelter syndrome.克兰费尔特综合征男性的癌症发病率。

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