Puig S, Ruiz A, Lázaro C, Castel T, Lynch M, Palou J, Vilalta A, Weissenbach J, Mascaro J M, Estivill X
Molecular Genetics Department, Hospital Duran i Reynals, Barcelona, Spain.
Am J Hum Genet. 1995 Aug;57(2):395-402.
We have analyzed 12 microsatellite markers on chromosome 9p in 54 paired cutaneous malignant melanoma (CMM) tumors and normal tissues. Forty-six percent of the tumors, including two in situ CMMs, showed loss of heterozygosity (LOH) at 9p. Only one tumor was homozygously deleted for 9p markers. The smallest deleted region was defined by five tumors and included markers D9S126 to D9S259. Loss of eight or more markers correlated significantly with worse prognosis (P < .002). Among the primary tumors, 87.5% of those with large deletions have a high risk of metastasis, as compared with only 18% of those without deletions or with loss of fewer than 8 markers (P < .001). It was not possible to demonstrate homozygous deletions of p16 in any of the CMM tumors. In four tumors, the LOH for 9p markers did not involve p16. The reported data suggest the existence of several tumor suppressor genes at 9p that are involved in the predisposition to and/or progression of CMM and exclude p16 from involvement in the early development of some melanoma tumors.
我们分析了54对皮肤恶性黑色素瘤（CMM）肿瘤组织和正常组织中9号染色体短臂上的12个微卫星标记。46%的肿瘤，包括2例原位CMM，显示9号染色体短臂杂合性缺失（LOH）。仅1例肿瘤9号染色体短臂标记纯合缺失。5例肿瘤确定了最小缺失区域，包括标记D9S126至D9S259。8个或更多标记缺失与预后较差显著相关（P < .002）。在原发性肿瘤中，大片段缺失的肿瘤有87.5%发生转移的风险高，相比之下，无缺失或缺失少于8个标记的肿瘤仅18%有转移风险（P < .001）。在任何CMM肿瘤中均未证实p16纯合缺失。4例肿瘤中，9号染色体短臂标记的LOH未涉及p16。报告的数据表明，9号染色体短臂存在几个抑癌基因，参与CMM的易感性和/或进展，且在一些黑色素瘤肿瘤的早期发生过程中不涉及p16。
