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

The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.

Inherited susceptibility to uterine leiomyomas and renal cell cancer

Open access
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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Research works printed but not linked: 7

  1. O Iliopoulos, C Eng Semin Oncol 27, 138–149 (2000).
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Metadata

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
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
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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