Familial adenomatous polyposis-associated, cribriform morular variant of papillary thyroid carcinoma harboring a K-RAS mutation: case presentation and review of molecular mechanisms.

摘要: Background: The cribriform morular variant of papillary thyroid carcinoma (CMVPTC) is a rare subtype cancer that occurs most often in association with the familial adenomatous polyposis (FAP) syndrome. Patient findings: A 18-year-old woman presented recurrence PTC her neck. She had prior diagnosis FAP Review original pathology slides reclassified case as CMVPTC. tumor was examined for four common mutations found PTC: BRAF, RET/PTC, RAS, and PAX/PPARγ. Summary: molecular alterations associated CMVPTC involve WNT signaling pathway but are incompletely understood. When syndrome, germline coli (APC) gene mutation almost always detected. For initiation oncogenesis however, one or more additional must occur, such new somatic APC (biallelic inactivation), β-catenin (CTNNB1) gene, gen...