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. 2001 Mar 13;98(6):3387-92.
doi: 10.1073/pnas.051633798. Epub 2001 Feb 27.

Inherited susceptibility to uterine leiomyomas and renal cell cancer

V Launonen  1 , O Vierimaa, M Kiuru, J Isola, S Roth, E Pukkala, P Sistonen, R Herva, L A Aaltonen
Affiliations

Inherited susceptibility to uterine leiomyomas and renal cell cancer

V Launonen et al. Proc Natl Acad Sci U S A. .

Abstract

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.

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Figures

Figure 1
Figure 1
Pedigrees of FAM-1 and FAM-2. During the study, members FAM-1/III-1, FAM-1/III-2, and FAM-1/III-14 were ascertained and included in the linkage analyses.
Figure 2
Figure 2
(A) Cutaneous leiomyomas from individual FAM-1/III-13. (B) A histological view (FAM-1/III-13, H&E, magnification ×40).
Figure 3
Figure 3
Histopathology of the renal cancers. (A) The papillary structure of the renal cancer of patient FAM-1/IV-11 (H&E, magnification ×200). (B) Cells with inclusion-like nucleoli (patient FAM-1/III-9, H&E, magnification ×400). (C and D) The papillary structure and nuclear features of the lesion from patient FAM-2/II-2 [(C) H&E, magnification ×200; (D) H&E, magnification ×400].
Figure 4
Figure 4
LOH analysis of uterine leiomyoma from the FAM-1/III-1 individual revealing loss of the normal allele. For each marker: (Upper) normal DNA (N); (Lower) tumor DNA (T). Arrows depict LOH.
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