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Inherited susceptibility to uterine leiomyomas and renal cell cancer
Open accessAbstract
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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“In 2001, mutation of fumarate hydratase leading to its inactivation was discovered in renal cell cancer129. Mutation of this enzyme leads to fumarate accumulation not only in skin cancer and uterine leiomyomas but also in breast, bladder, and Leydig cell tumors130.”
From Glutamine reliance in cell metabolism (2020) · cites this paper as [129]
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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,...
- 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
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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