Sarcomas and Multiple Polyposis in a Kindred: A Genetic Variety of Hereditary Polyposis?

Joseph F. Fraumeni, Charles L. Vogel, John M. Easton

Research output: Contribution to journalArticle

24 Scopus citations

Abstract

A family is presented in which the father and one of his children died, respectively, of pulmonary osteosarcoma and retroperitoneal liposarcoma; another child died of carcinoma of the colon with multiple polyposis; and a third has both a reticulum cell sarcoma and colonic polyps. The familial association of polyposis coli with extra-alimentary sarcomas has not previously been reported, and may be a variant of Gardner's syndrome (multiple polyposis with benign mesenchymal tumors). As in Gardner's syndrome, the familial pattern was consistent with autosomal dominant inheritance of a single mutant, highly penetrant, pleiotrophic gene. Phenotypic differences from Gardner's syndrome and familial polyposis suggest either that there was a separate gene or that the gene for one of these syndromes was expressed differently by modifiers segregating in this family. The development of fatal metastatic carcinoma of the colon in an 11-year-old boy appears to be the earliest recorded instance of this lesion in hereditary polyposis.

Original languageEnglish (US)
Pages (from-to)57-61
Number of pages5
JournalArchives of internal medicine
Volume121
Issue number1
DOIs
StatePublished - Jan 1968
Externally publishedYes

ASJC Scopus subject areas

  • Internal Medicine

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