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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Mutation and cancer: statistical study of retinoblastoma
Knudson, A. G. (1971) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.68.4.820 · Cited by 7,612
Identification of the von Hippel-Lindau Disease Tumor Suppressor Gene
Latif, F., Tory, K., Gnarra, J. R., Yao, M., Duh, F.-M. C., Orcutt, M. L., Stackhouse, T. M., Kuzmin, I., Modi, W. S., Geil, L., et al. (1993) · Science · doi:10.1126/science.8493574 · Cited by 2,971
Parametric and nonparametric linkage analysis: a unified multipoint approach.
Kruglyak, L., Daly, M. J., Daly, M. J., & Lander, E. S. (1996) · PubMed Central · Cited by 2,883
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas
Schmidt, L. S., Duh, F.-M. C., Chen, F., Kishida, T., Glenn, G. M., Choyke, P. L., Scherer, S. W., Zhuang, Z., Lubensky, I. A., Dean, M. C., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-68 · Cited by 1,517
Faster sequential genetic linkage computations.
Cottingham, R. W., Idury, R. M., & Schäffer, A. A. (1993) · Europe PMC (PubMed Central) · Cited by 1,364
Papillary renal cell carcinoma: a clinicopathologic and immunohistochemical study of 105 tumors.
Delahunt, B., & Eble, J. N. (1997) · PubMed · Cited by 714
Data Quality and Quality Control of a Population-Based Cancer Registry: Experience in Finland
Teppo, L., Pukkala, ., & Lehtonen, M. (1994) · Acta Oncologica · doi:10.3109/02841869409098430 · Cited by 648
Hereditary Renal-Cell Carcinoma Associated with a Chromosomal Translocation
Cohen, A. J., Li, F. P., Berg, S., Marchetto, D. J., Tsai, S., Jacobs, S. C., & Brown, R. S. (1979) · New England Journal of Medicine · doi:10.1056/nejm197909133011107 · Cited by 643
Tumors of the Kidney, Bladder, and Related Urinary Structures
Murphy, W. M., Grignon, D. J., & Perlman, E. J. (2004) · American Registry of PathologyWashington, DC eBooks · doi:10.55418/1881041883 · Cited by 433
Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene.
Yeung, R. S. W., Xiao, G. H., Jin, F., Lee, W. C., Testa, J. R., & Knudson, A. G. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.24.11413 · Cited by 307

Show all 24 references

Research works printed but not linked: 7

O Iliopoulos, C Eng Semin Oncol 27, 138–149 (2000).
C D Malchoff, M Sarfarazi, B Tendler, F Forouhar, G Whalen, V Joshi, A Arnold, D M Malchoff J Clin Endocrinol Metab 85, 1758–1764 (2000).
B Delahunt, J N Eble Mod Pathol 10, 537–544 (1997).
L Kruglyak, M J Daly, M P Reeve-Daly, E S Lander Am J Hum Genet 58, 1347–1363 (1996).
R W Cottingham, R M Idury, A A Schaffer Am J Hum Genet 53, 252–263 (1993).
J I Everitt, D C Wolf, S R Howe, T L Goldsworthy, C Walker Am J Pathol 146, 1556–1567 (1995).
V E Reuter, J C Presti Semin Oncol 27, 124–137 (2000).

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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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