系统性肥大细胞增多症中的近单倍体骨髓核型：这是该疾病的特征还是偶然发现？

A near-haploid bone marrow karyotype in systemic mast cell disease: is it characteristic of the disease or an incidental finding?

作者信息

Shekhter-Levin S, Ball E, Swerdlow S H, Li W V, Kapadia S B, Sherer M E, Wald N, Gollin S M

机构信息

Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, Pennsylvania 15213, USA.

出版信息

Cancer Genet Cytogenet. 1998 Jun;103(2):124-9. doi: 10.1016/s0165-4608(97)00386-5.

DOI:10.1016/s0165-4608(97)00386-5

PMID:9614910

Abstract

We present the case of a 40-year-old man with aggressive systemic mast cell disease. The patient had a predominant near-haploid clone in his bone marrow cells, detected by cytogenetic analysis performed at the time of diagnosis. The similarities between this case and a previously published case of near-haploidy in a patient with malignant mastocytosis suggest that near-haploidy may be a characteristic of aggressive systemic mast cell disease rather than an incidental finding.

摘要

我们报告一例40岁侵袭性系统性肥大细胞病男性患者。在诊断时进行的细胞遗传学分析检测到，该患者骨髓细胞中存在一个主要的近单倍体克隆。此病例与先前发表的一例恶性肥大细胞增多症患者近单倍体病例之间的相似性表明，近单倍体可能是侵袭性系统性肥大细胞病的一个特征，而非偶然发现。