welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
Familial Adenomatous Polyposis-Associated, Cribriform Morular Variant of Papillary Thyroid Carcinoma Harboring a K-RAS Mutation: Case Presentation and Review of Molecular Mechanisms
source: Thyroid
year: 2014
authors: Giannelli S M, McPhaul L, Nakamoto J, Gianoukakis A G
summary/abstract:BACKGROUND : The cribriform morular variant of papillary thyroid carcinoma (CMVPTC) is a rare subtype of papillary thyroid cancer that occurs most often in association with the familial adenomatous polyposis (FAP) syndrome.
PATIENT FINDINGS : A 18-year-old woman presented with recurrence of PTC in her neck. She had a prior diagnosis of FAP syndrome. Review of her original pathology slides reclassified the case as a CMVPTC. The tumor was examined for the four most common mutations found in PTC: BRAF, RET/PTC, RAS, and PAX/PPARγ.
SUMMARY : The molecular alterations associated with CMVPTC involve the WNT signaling pathway but are incompletely understood. When CMVPTC is associated with the FAP syndrome, a germline adenomatous polyposis coli (APC) gene mutation is almost always detected. For the initiation of oncogenesis however, one or more additional molecular alterations must occur, such as a new somatic mutation in the APC gene (biallelic inactivation), somatic mutations in the β-catenin (CTNNB1) gene, or gene-gene interaction (epistasis). To date, of the mutations commonly associated with PTC, only RET/PTC mutations have been reported in CMVPTC. We report a FAP-associated CMVPTC tumor with atypically aggressive features harboring a RAS mutation and review the molecular mechanisms associated with this interesting PTC subtype. The literature was reviewed using MEDLINE (included case presentations, original research, and reviews).
CONCLUSION : We report here the first RAS mutation detected in an FAP-associated CMVPTC tumor.
organization: Harbor-UCLA Medical CenterDOI: 10.1089/thy.2013.0589
read more full text source
expertly curated content related to this topic
-
Familial Investigations of Childhood Cancer PredispositionWhile it is well recognized that heredit...
-
The Prevalence of Thyroid Cancer and Benign Thyroid Disease in Patients with Familial Adenomatous Polyposis may be H...PURPOSE : Patients with familial adenoma...
-
Cribriform-Morular Variant of Papillary Thyroid Carcinoma: An Indication to Screen for Occult FAPCribriform-morular variant (CMV) is a ra...
-
Screening for Thyroid Cancer in Patients with Familial Adenomatous PolyposisOBJECTIVE : Clarify the incidence of thy...
-
Papillary Thyroid Carcinoma Associated with Familial Adenomatous Polyposis: Molecular Analysis of Pathogenesis in a ...We found a case of a papillary thyroid c...
-
Bonnies Diaryhttps://jtvcancersupport.com/embed/26553...
-
Clinical and Genetic Characterization of Classical Forms of Familial Adenomatous Polyposis: A Spanish Population Stu...BACKGROUND : Classical familial adenomat...