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Familial sarcoma: challenging pedigrees.
Cancer 2003; 98(9):1947-57C

Abstract

BACKGROUND

Partially due to the rare occurrence of soft tissue and osteogenic sarcomas in the general population, scant attention has been given to their hereditary etiology. Their overall poor prognosis might be ameliorated through an understanding of their environmental and hereditary causal factors, and/or their interactions, thereby contributing to earlier diagnosis and even the development of molecularly based targeted therapy.

METHODS

The authors selected 10 sarcoma-prone families from their extensive hereditary cancer-prone family resource and focused on their challenging diagnostic, surveillance, and management features. The family study protocol included the compilation of a detailed family history of malignant disease of all anatomic sites and the collection of all available primary medical and pathology documents for verification. Genetic counseling was provided before DNA collection and at disclosure of results.

RESULTS

These families displayed marked phenotypic and genotypic heterogeneity. In one of these families, 16 relatives had sarcomas, with 2 of the 16 each having 2 metachronous sarcomas; to our knowledge, this represents the greatest number of sarcomas reported in any family described to date. Two familial atypical multiple-mole melanoma syndrome kindreds with the CDKN2A mutation showed the association of sarcoma with malignant melanoma, whereas one family had several pancreatic carcinomas. Other families with sarcoma had hereditary nonpolyposis colorectal carcinoma with MSH2 mutation, hereditary breast carcinoma with BRCA1 mutation, and p53 mutation in a Li-Fraumeni syndrome.

CONCLUSIONS

Sarcoma-prone families reported in the current study were selected carefully to depict clinicopathology and compliance features, the understanding of which could elucidate the etiologic role of genetic factors in concert with the phenotypic and genotypic heterogeneity encountered in such families. The lack of a population-based data set for these families posed a limitation.

Authors+Show Affiliations

Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68178, USA. htlynch@creighton.edu

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

14584079

Citation

Lynch, Henry T., et al. "Familial Sarcoma: Challenging Pedigrees." Cancer, vol. 98, no. 9, 2003, pp. 1947-57.
Lynch HT, Deters CA, Hogg D, et al. Familial sarcoma: challenging pedigrees. Cancer. 2003;98(9):1947-57.
Lynch, H. T., Deters, C. A., Hogg, D., Lynch, J. F., Kinarsky, Y., & Gatalica, Z. (2003). Familial sarcoma: challenging pedigrees. Cancer, 98(9), pp. 1947-57.
Lynch HT, et al. Familial Sarcoma: Challenging Pedigrees. Cancer. 2003 Nov 1;98(9):1947-57. PubMed PMID: 14584079.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial sarcoma: challenging pedigrees. AU - Lynch,Henry T, AU - Deters,Carolyn A, AU - Hogg,David, AU - Lynch,Jane F, AU - Kinarsky,Yulia, AU - Gatalica,Zoran, PY - 2003/10/30/pubmed PY - 2003/11/6/medline PY - 2003/10/30/entrez SP - 1947 EP - 57 JF - Cancer JO - Cancer VL - 98 IS - 9 N2 - BACKGROUND: Partially due to the rare occurrence of soft tissue and osteogenic sarcomas in the general population, scant attention has been given to their hereditary etiology. Their overall poor prognosis might be ameliorated through an understanding of their environmental and hereditary causal factors, and/or their interactions, thereby contributing to earlier diagnosis and even the development of molecularly based targeted therapy. METHODS: The authors selected 10 sarcoma-prone families from their extensive hereditary cancer-prone family resource and focused on their challenging diagnostic, surveillance, and management features. The family study protocol included the compilation of a detailed family history of malignant disease of all anatomic sites and the collection of all available primary medical and pathology documents for verification. Genetic counseling was provided before DNA collection and at disclosure of results. RESULTS: These families displayed marked phenotypic and genotypic heterogeneity. In one of these families, 16 relatives had sarcomas, with 2 of the 16 each having 2 metachronous sarcomas; to our knowledge, this represents the greatest number of sarcomas reported in any family described to date. Two familial atypical multiple-mole melanoma syndrome kindreds with the CDKN2A mutation showed the association of sarcoma with malignant melanoma, whereas one family had several pancreatic carcinomas. Other families with sarcoma had hereditary nonpolyposis colorectal carcinoma with MSH2 mutation, hereditary breast carcinoma with BRCA1 mutation, and p53 mutation in a Li-Fraumeni syndrome. CONCLUSIONS: Sarcoma-prone families reported in the current study were selected carefully to depict clinicopathology and compliance features, the understanding of which could elucidate the etiologic role of genetic factors in concert with the phenotypic and genotypic heterogeneity encountered in such families. The lack of a population-based data set for these families posed a limitation. SN - 0008-543X UR - https://www.unboundmedicine.com/medline/citation/14584079/Familial_sarcoma:_challenging_pedigrees_ L2 - https://doi.org/10.1002/cncr.11743 DB - PRIME DP - Unbound Medicine ER -