Familial Sarcoma: Challenging Pedigrees

Henry T. Lynch, Carolyn A. Deters, David Hogg, Jane F. Lynch, Yulia Kinarsky, Zoran Gatalica

Research output: Contribution to journalArticle

24 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1947-1957
Number of pages11
JournalCancer
Volume98
Issue number9
DOIs
StatePublished - Nov 1 2003

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Pedigree
Sarcoma
Mutation
Li-Fraumeni Syndrome
Dysplastic Nevus Syndrome
Genetic Counseling
Disclosure
Osteosarcoma
Population
Compliance
Early Diagnosis
Colorectal Neoplasms
Melanoma
Pathology
Breast Neoplasms

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Oncology

Cite this

Lynch, H. T., Deters, C. A., Hogg, D., Lynch, J. F., Kinarsky, Y., & Gatalica, Z. (2003). Familial Sarcoma: Challenging Pedigrees. Cancer, 98(9), 1947-1957. https://doi.org/10.1002/cncr.11743

Familial Sarcoma : Challenging Pedigrees. / Lynch, Henry T.; Deters, Carolyn A.; Hogg, David; Lynch, Jane F.; Kinarsky, Yulia; Gatalica, Zoran.

In: Cancer, Vol. 98, No. 9, 01.11.2003, p. 1947-1957.

Research output: Contribution to journalArticle

Lynch, HT, Deters, CA, Hogg, D, Lynch, JF, Kinarsky, Y & Gatalica, Z 2003, 'Familial Sarcoma: Challenging Pedigrees', Cancer, vol. 98, no. 9, pp. 1947-1957. https://doi.org/10.1002/cncr.11743
Lynch HT, Deters CA, Hogg D, Lynch JF, Kinarsky Y, Gatalica Z. Familial Sarcoma: Challenging Pedigrees. Cancer. 2003 Nov 1;98(9):1947-1957. https://doi.org/10.1002/cncr.11743
Lynch, Henry T. ; Deters, Carolyn A. ; Hogg, David ; Lynch, Jane F. ; Kinarsky, Yulia ; Gatalica, Zoran. / Familial Sarcoma : Challenging Pedigrees. In: Cancer. 2003 ; Vol. 98, No. 9. pp. 1947-1957.
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