一名骨髓增生异常综合征伴血小板增多症患者的19号染色体三体异常。

Trisomy 19 in a patient with myelodysplastic syndrome and thrombocytosis.

作者信息

Humphries J E, Wheby M S

机构信息

Department of Internal Medicine, University of Virginia Health Sciences Center, Charlottesville 22908.

出版信息

Cancer Genet Cytogenet. 1990 Feb;44(2):187-91. doi: 10.1016/0165-4608(90)90045-c.

DOI:10.1016/0165-4608(90)90045-c

PMID:2297677

Abstract

A patient with refractory anemia with excess blasts, ringed sideroblasts, and thrombocytosis was found on cytogenetic analysis to have trisomy 19 as the sole abnormality. Although trisomy 19 in combination with other chromosomal anomalies has been encountered in association with a variety of hematologic malignancies, many solid tumors, and the myelodysplastic syndrome, its occurrence as the only cytogenetic aberration is rare and has not been reported in association with thrombocythemia.

摘要

一名伴有原始细胞增多、环形铁粒幼细胞及血小板增多的难治性贫血患者，细胞遗传学分析发现其唯一异常为19号染色体三体。虽然19号染色体三体与其他染色体异常并存已在多种血液系统恶性肿瘤、许多实体瘤及骨髓增生异常综合征中发现，但其作为唯一的细胞遗传学异常出现较为罕见，且与血小板增多症相关的情况尚未见报道。