1号、11号和13号染色体经常参与转移性默克尔细胞癌的核型异常。

Chromosomes 1, 11, and 13 are frequently involved in karyotypic abnormalities in metastatic Merkel cell carcinoma.

作者信息

Leonard J H, Leonard P, Kearsley J H

机构信息

Queensland Radium Institute Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.

出版信息

Cancer Genet Cytogenet. 1993 May;67(1):65-70. doi: 10.1016/0165-4608(93)90046-o.

DOI:10.1016/0165-4608(93)90046-o

PMID:8504402

Abstract

We report a cytogenetic study of six Merkel cell carcinomas (MCC) in which rearrangement of chromosome 1 was noted in four cases: two cases were trisomic, in one case there was a reciprocal translocation between chromosomes 1 and 5 [t(1;5)(p36;p13)], and in the fourth case all cells had a normal chromosome 1 and three derivatives, a del(1)(p22) and del(1)(q21), and a translocation involving material of unknown origin to the long arm, t(1;?)(q21;?). Four cases demonstrated loss of chromosome 13; in two of these, both copies were lost, and the survival for these two patients was much longer than is common for MCC patients. Partial trisomy of chromosome 11 was noted in two cases, and two patients demonstrated loss of chromosome 22 in all cells examined. Although no consistent chromosome change was noted in our cases, our data and those of previously published reports, show that abnormalities of chromosomes 1, 11, and 13 occur in 30-47% of cytogenetic reports of this rare malignancy.

摘要

我们报告了一项对6例默克尔细胞癌（MCC）的细胞遗传学研究，其中4例观察到1号染色体重排：2例为三体性，1例在1号和5号染色体之间存在相互易位[t(1;5)(p36;p13)]，第4例所有细胞的1号染色体正常，但有3个衍生染色体，一个del(1)(p22)和一个del(1)(q21)，以及一个涉及不明来源物质与长臂的易位，t(1;?)(q21;?)。4例显示13号染色体缺失；其中2例两条拷贝均缺失，这两名患者的生存期比MCC患者常见的生存期长得多。2例观察到11号染色体部分三体性，2例患者在所有检测细胞中均显示22号染色体缺失。尽管在我们的病例中未观察到一致的染色体变化，但我们的数据以及先前发表报告的数据表明，在这种罕见恶性肿瘤的细胞遗传学报告中，1号、11号和13号染色体异常发生率为30%-47%。