[尖锐湿疣黑色素瘤中 CCND1 基因和 11 号染色体中心粒的拷贝数变异]。

Q3 Medicine
R P Guo, L Y Yang, J Du, J F Zhao, F Shi, X Zhang, J Su
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引用次数: 0

摘要

研究目的研究 CCND1 基因和第 11 号染色体拷贝数变异与尖锐湿疣临床病理特征的相关性。方法收集2018年1月至2021年8月北京大学第三医院病理科确诊的33例尖锐湿疣黑色素瘤病例。采用荧光原位杂交(FISH)技术检测CCND1基因拷贝数和11号染色体中心粒。分析CCND1基因拷贝数与11号染色体中心粒的关系,以及CCND1基因拷贝数与临床病理特征的相关性。结果男性患者 15 人,女性患者 18 人,年龄在 22-86 岁之间。63.6%的患者(21/33)CCND1基因拷贝数增加。21.2%(7/33)的CCND1拷贝数增加患者伴有11号染色体中心粒拷贝数增加。27.3%(9/33)的病例 CCND1 基因拷贝数较低,其中 4 例(4/33,12.1%)伴有 11 号染色体中心粒拷贝数增加。36.4%的病例(12/33)的 CCND1 基因拷贝数较高,其中 3 例(3/33,9.1%)伴有 11 号染色体中心粒拷贝数增加。没有 CCND1 低拷贝数增加的病例显示 CCND1/CEP11 比值大于 2.00。11 例 CCND1 高拷贝数增加病例的 CCND1/CEP11 比值大于或等于 2.00。然而,CCND1拷贝数增加与年龄、性别、组织学类型、布瑞斯洛厚度、溃疡和克拉克水平等临床病理特征均无明显相关性。结论CCND1拷贝数增加是尖锐湿疣黑色素瘤的一个重要分子改变。在某些病例中,CCND1拷贝数的增加可能伴随着11号染色体拷贝数的增加。在这些病例中,CCND1 基因拷贝数的增加可能是 11 号染色体拷贝数变化的结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Copy number variations of CCND1 gene and chromosome 11 centromere in acral melanoma].

Objective: To study the correlation between the copy number variations of CCND1 gene and chromosome 11 and their associations with clinicopathologic features in acral melanoma. Methods: Thirty-three acral melanoma cases diagnosed at the Department of Pathology of Peking University Third Hospital, Beijing, China from January 2018 to August 2021 were collected. Fluorescence in situ hybridization (FISH) was used to detect the copy number of CCND1 gene and centromere of chromosome 11. The relationship between the copy numbers of CCND1 and chromosome 11 centromere, and the correlation between CCND1 copy number and clinicopathologic characteristics were analyzed. Results: There were 15 male and 18 female patients, with an age ranging from 22-86 years. 63.6% (21/33) of the patients had an increased CCND1 gene copy number. 21.2% (7/33) of patients with increased CCND1 copy number had an accompanying chromosome 11 centromere copy number increase. 27.3% (9/33) of the cases had a low copy number of CCND1 gene, and 4 of them (4/33, 12.1%) were accompanied by chromosome 11 centromere copy number increase. 36.4% (12/33) of the cases had a high copy number of CCND1 gene, and 3 (3/33, 9.1%) of them were accompanied by chromosome 11 centromere copy number increase. No cases with CCND1 low copy number increase showed CCND1/CEP11 ratio greater than 2.00. The 11 cases with CCND1 high copy number increase showed CCND1/CEP11 ratio greater than or equal to 2.00. However, there was no significant correlation between CCND1 copy number increase and any of the examined clinicopathologic features such as age, sex, histological type, Breslow thickness, ulcer and Clark level. Conclusions: CCND1 copy number increase is a significant molecular alteration in acral melanoma. In some cases, CCND1 copy number increase may be accompanied by the copy number increase of chromosome 11. For these cases the copy number increase in CCND1 gene may be a result of the copy number change of chromosome 11.

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中华病理学杂志
中华病理学杂志 Medicine-Medicine (all)
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