Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology
Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology
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DOI：
10.1016/s0002-9440(10)61757-9
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发表时间：
2001-09-01
影响因子：
6
通讯作者：
Aaltonen, LA
中科院分区：
文献类型：
--
作者：
Kiuru, M;Launonen, V;Aaltonen, LA
家族性多发性皮肤平滑肌瘤病(MCL)的分子背景知之甚少。我们在此报告一个有7个受累成员的多发性皮肤平滑肌瘤病的临床、组织病理学和分子研究。这项详细的研究揭示了最近描述的癌症易感综合征、遗传性子宫肌瘤病和肾细胞癌(HLRCC)的强烈特征。该家系在1q与HLRCC基因座连锁。此外，来自先证者的所有7个皮肤肌瘤都表现出野生型等位基因的丢失，证实了与染色体1Q上的易感基因的关联。一名患者在35岁时患上了肾细胞癌。该肿瘤表现为罕见的乳头状组织病理学，这似乎是HLRCC的特征。衍生的连锁、杂合性缺失和临床数据表明，MCL和HLRCC是一种表型不同的单一疾病。应该考虑到子宫肌瘤病家系成员易患肾细胞癌的可能性。
Little has been known about the molecular background of familial multiple cutaneous leiomyomatosis (MCL). We report here a clinical, histopathological, and molecular study of a multiple cutaneous leiomyomatosis kindred with seven affected members. This detailed study revealed strong features of a recently described cancer predisposition syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC). The family was compatible with linkage to the HLRCC locus in 1q. Also, all seven cutaneous leiomyomas derived from the proband and analyzed for loss of heterozygosity displayed loss of the wildtype allele, confirming the association with a susceptibility gene in chromosome 1q. One individual had had renal cell cancer at the age of 35 years. This tumor displayed a rare papillary histopathology, which appears to be characteristic for HLRCC. The derived linkage, loss of heterozygosity, and clinical data suggest that MCL and HLRCC are a single disease with a variable phenotype. The possibility that members of leiomyomatosis families are predisposed to renal cell cancer should be taken into account.