Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patients

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Walsh MD, Cummings MC, Buchanan DD, Dambacher WM, Arnold S, McKeone D, Byrnes R, Barker MA, Leggett BA, Gattas M, Jass JR, Spurdle AB, Young J, Obermair A (2008) Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patients. Clinical cancer research : an official journal of the American Association for Cancer Research 14:1692-1700


PURPOSE: A woman with early-onset endometrial cancer (EC) may represent the "sentinel" cancer event in a Lynch syndrome kindred. The aim of this study was to determine the incidence of Lynch syndrome in a series of young-onset EC, and to identify molecular, clinical, and pathologic features that may alert clinicians to the presence of this disorder. EXPERIMENTAL DESIGN: Patients with EC, ages < or="50" years,="" were="" identified="" from="" the="" queensland="" centre="" for="" gynaecological="" cancer.="" tumor="" sections="" underwent="" histopathology="" review="" and="" were="" immunostained="" for="" mismatch="" repair="" proteins.="" tumor="" dna="" was="" tested="" for="" microsatellite="" instability="" and="" methylation="" of="" mlh1.="" patients="" were="" conservatively="" classified="" as="" presumptive="" lynch="" syndrome="" if="" their="" tumors="" showed="" loss="" of="" at="" least="" one="" mismatch="" repair="" protein="" and="" were="" negative="" for="" methylation="" of="" mlh1.="" personal="" and="" family="" history="" of="" cancer="" was="" reviewed="" where="" available.="" results:="" presumptive="" lynch="" syndrome="" was="" seen="" in="" 26="" of="" 146="" (18%)="" tumors.="" these="" tumors="" were="" more="" likely="" to="" be="" poorly="" differentiated,="" international="" federation="" of="" gynecology="" and="" obstetrics="" stage="" ii="" and="" above,="" have="" tumor-infiltrating="" lymphocytes,="" have="" higher="" mitotic="" rate,="" and="" have="" deeper="" myometrial="" invasion="" (p="">< 0.05).="" lynch="" syndrome="" cases="" were="" more="" likely="" to="" be="" associated="" with="" a="" positive="" family="" history="" when="" analyzed="" for="" amsterdam="" criteria="" ii,="" diagnosis="" of="" a="" lynch="" syndrome="" spectrum="" cancer="" in="" at="" least="" one="" first-degree="" relative,="" and="" family="" history="" of="" any="" cancer="" (p="">< 0.05).="" conclusion:="" presumptive="" lynch="" syndrome="" was="" identified="" in="" 18%="" of="" early-onset="" ec.="" a="" risk="" of="" this="" magnitude="" would="" argue="" for="" routine="" immunohistochemical="" testing="" of="" tumors="" in="" patients="" diagnosed="" with="" ec="" at="" or="" before="" the="" age="" of="" 50="">

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