Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen L A
Department of Medical Genetics, Haartman Institute, University of Helsinki, P. O. Box 21, FIN-00014, Helsinki, Finland.
Proc Natl Acad Sci U S A. 2001 Mar 13;98(6):3387-92. doi: 10.1073/pnas.051633798. Epub 2001 Feb 27.
Herein we report the clinical, histopathological, and molecular features of a cancer syndrome with predisposition to uterine leiomyomas and papillary renal cell carcinoma. The studied kindred included 11 family members with uterine leiomyomas and two with uterine leiomyosarcoma. Seven individuals had a history of cutaneous nodules, two of which were confirmed to be cutaneous leiomyomatosis. The four kidney cancer cases occurred in young (33- to 48-year-old) females and displayed a unique natural history. All these kidney cancers displayed a distinct papillary histology and presented as unilateral solitary lesions that had metastasized at the time of diagnosis. Genetic-marker analysis mapped the predisposition gene to chromosome 1q. Losses of the normal chromosome 1q were observed in tumors that had occurred in the kindred, including a uterine leiomyoma. Moreover, the observed histological features were used as a tool to diagnose a second kindred displaying the phenotype. We have shown that predisposition to uterine leiomyomas and papillary renal cell cancer can be inherited dominantly through the hereditary leiomyomatosis and renal cell cancer (HLRCC) gene. The HLRCC gene maps to chromosome 1q and is likely to be a tumor suppressor. Clinical, histopathological, and molecular tools are now available for accurate detection and diagnosis of this cancer syndrome.
在此，我们报告一种易患子宫平滑肌瘤和乳头状肾细胞癌的癌症综合征的临床、组织病理学和分子特征。所研究的家族包括11名患有子宫平滑肌瘤的家庭成员和2名患有子宫平滑肌肉瘤的成员。7人有皮肤结节病史，其中2人被确诊为皮肤平滑肌瘤病。4例肾癌发生在年轻（33至48岁）女性中，呈现出独特的自然病程。所有这些肾癌均表现出独特的乳头状组织学特征，表现为单侧孤立性病变，在诊断时已发生转移。基因标记分析将易感基因定位到1号染色体。在该家族发生的肿瘤中观察到正常1号染色体的缺失，包括一个子宫平滑肌瘤。此外，所观察到的组织学特征被用作诊断另一个表现出该表型的家族的工具。我们已经表明，子宫平滑肌瘤和乳头状肾癌的易感性可通过遗传性平滑肌瘤病和肾细胞癌（HLRCC）基因以显性方式遗传。HLRCC基因定位于1号染色体，可能是一种肿瘤抑制基因。现在有临床、组织病理学和分子工具可用于准确检测和诊断这种癌症综合征。
