Cited by 675Uterine Myomas and TreatmentsRenal cell carcinoma treatmentTuberous Sclerosis Complex Research

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Inherited susceptibility to uterine leiomyomas and renal cell cancer

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Launonen, Virpi, Vierimaa, Outi, Kiuru, Maija, Isola, Jorma, Roth, Stina, Pukkala, Eero, Sistonen, Pertti, Herva, Riitta, Aaltonen, Lauri A.·2001·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.051633798PMC PMC30663

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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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Authors: Launonen, V., Vierimaa, O., Kiuru, M., Isola, J., Roth, S., Pukkala, E., Sistonen, P., Herva, R., & Aaltonen, L. A.
Affiliations: University of Helsinki (FI)
Department of Medical Genetics, Haartman Institute, University of Helsinki, P. O. Box 21, FIN-00014, Helsinki, Finland; Department of Clinical Genetics, Oulu University Hospital, Kajaanintie 50, FIN-90220, Oulu, Finland; Institute of Medical Technology, University of Tampere, FIN-33014, Tampere, Finland; Finnish Cancer Registry, Institute for Statistical and Epidemiological Cancer Research, Finnish Cancer Registry, FIN-00170, Helsinki, Finland; Finnish Red Cross Blood Transfusion Service,...
ORCID: Kiuru, Maija
Isola, Jorma
Pukkala, Eero
Aaltonen, Lauri A.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2001-02-27
Volume: 98
Issue: 6
Pages: 3387-3392
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.051633798
PMC: PMC30663
OpenAlex: W2110394707
Cited by: 669
References: 24
Citations by year: 2026: 9 · 2025: 21 · 2024: 21 · 2023: 27 · 2022: 23 · 2021: 35 · 2020: 30 · 2019: 38 · 2018: 33 · 2017: 40 · 2016: 30 · 2015: 47 · 2014: 27 · 2013: 35 · 2012: 30
FWCI: 18.01
Type: journal article
Language: en
Open access: green
europepmc.org
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Obstetrics and Gynecology › Uterine Myomas and Treatments
Health Sciences › Medicine › Oncology › Renal cell carcinoma treatment
Health Sciences › Medicine › Genetics (clinical) › Tuberous Sclerosis Complex Research
Keywords: hereditary leiomyomatosis and renal cell carcinoma, uterine fibroids, papillary renal cell carcinoma, uterine leiomyosarcoma, tumor suppressor, hereditary cancer predisposition, dominant inheritance, metastatic renal cell carcinoma, histopathological diagnosis
MeSH terms: Adult, Carcinoma, Renal Cell, Chromosomes, Human, Female, Genetic Markers, Humans, Kidney Neoplasms, Leiomyoma, Leiomyosarcoma, Male, Middle Aged, Pedigree, Phenotype, Uterine Neoplasms, Genetic Predisposition to Disease

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Inherited susceptibility to uterine leiomyomas and renal cell cancer

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