%0 Journal Article
%T [Copy number variations of CCND1 gene and chromosome 11 centromere in acral melanoma].
%A Guo RP
%A Yang LY
%A Du J
%A Zhao JF
%A Shi F
%A Zhang X
%A Su J
%J Zhonghua Bing Li Xue Za Zhi
%V 53
%N 6
%D 2024 Jun 8
%M 38825900
暂无%R 10.3760/cma.j.cn112151-20231015-00264
%X 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.<BR>目的： 探讨肢端黑色素瘤中CCND1基因拷贝数增加与第11号染色体拷贝数之间的关系，及其与临床病理特征的联系。 方法： 收集2018年1月至2021年8月于北京大学第三医院病理科经手术切除后诊断明确的肢端黑色素瘤标本33例。采用荧光原位杂交（fluorescence in situ hybridization，FISH）技术检测肿瘤中CCND1基因和第11号染色体着丝粒拷贝数，分析两者拷贝数变化的关系，并分析CCND1拷贝数异常与患者临床病理特征的相关性。 结果： 33例肢端黑色素瘤患者中男性15例，女性18例，年龄范围22~86岁。63.6%（21/33）的肢端黑色素瘤患者有CCND1基因拷贝数增加，其中同时伴第11号染色体多体者占21.2%（7/33）。27.3%（9/33）的病例CCND1基因拷贝数呈低拷贝增加，其中4例（4/33，12.1%）同时伴有第11号染色体多体；36.4%（12/33）的病例CCND1基因拷贝数呈高拷贝增加，其中3例（3/33，9.1%）同时伴有第11号染色体多体。CCND1低拷贝增加组中未见CCND1/CEP11比值≥2.00者；高拷贝增加组中CCND1/CEP11比值≥2.00者共11例（11/12）。CCND1基因拷贝数增加与患者年龄、性别、组织学类型、Breslow厚度、溃疡和Clark分级无相关性（P>0.05）。 结论： CCND1基因拷贝数增加是肢端黑色素瘤的重要分子改变，部分CCND1拷贝数增加的肢端黑色素瘤患者可同时存在第11号染色体多体，这部分患者CCND1拷贝数增加可能是第11号染色体多体的伴随表现。.