title: Gynecologic cancer clues to Lynch syndrome II diagnosis: a family report.
abstract: Lynch syndrome II was diagnosed when two sisters manifested early-onset synchronous carcinomas of the ovary and endometrium and a third sister was found to have Duke's A carcinoma of the cecum. A detailed cancer family history indicated paternal transmission of the deleterious genotype. The pattern of carcinoma of the colorectum and extracolonic sites throughout the extended family was then found to be consonant with this hereditary cancer-prone disorder. Lynch syndrome II may be exceedingly difficult to diagnose due to an absence of premonitory clinical signs or biomarkers of genotypic susceptibility. Its recognition is therefore dependent on a detailed cancer family history (all anatomic sites), coupled with knowledge of the pattern of the cancer spectrum, distribution, and natural history, as manifested in this hereditary disorder. We describe the decision logic that was involved in the diagnosis of Lynch syndrome II in this family and indicate the important role of the gynecologists in this process.
authors.affiliation: Department of Preventive Medicine/Public Health, Creighton University School of Medicine, Omaha, Nebraska 68178.
authors.forename: H T
authors.initials: HT
authors.lastname: Lynch
authors.forename: R J
authors.initials: RJ
authors.lastname: Cavalieri
authors.forename: J F
authors.initials: JF
authors.lastname: Lynch
authors.forename: M J
authors.initials: MJ
authors.lastname: Casey
mesh_terms: D000328:Adult; D000368:Aged; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D004198:Disease Susceptibility; D016889:Endometrial Neoplasms / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree