title: RET/PTC rearrangement occurring in primary peritoneal carcinoma.
abstract: RET/PTC rearrangements are initiating events in the development of a significant proportion of papillary thyroid carcinomas. Activated RET/PTC mutations are thought to be restricted to thyroid disease, but this study proposes that these events may also occur in nonthyroid tumors. A total of 57 nonthyroid papillary tumors were examined for RET/PTC rearrangements using interphase fluorescence in situ hybridization, Taqman reverse transcriptase polymerase chain reaction, and immunohistochemistry. Taqman single nucleotide polymorphism detection was used to analyze for expression of mutated BRAF T1799A. In all, 20% (3/15) of primary peritoneal carcinoma had detectable RET/PTC1 rearrangements by all 3 methodologies. A further case of similar histotype had an alternate RET/ PTC rearrangement. No RET/PTC1 rearrangements were detected in the remaining tumor cohort. All 57 tumors were homozygous for wild-type BRAF. The results indicate that RET/PTC rearrangements occur in a small subset of nonthyroid papillary tumors. These rearrangements may not be directly implicated in tumor growth; rather representing "passenger" mutations reflecting RET instability in secondary tumor subclones.
authors.affiliation: Department of Histopathology, Trinity College Medical School, Dublin, Ireland. flavinr@tcd.ie
authors.forename: Richard
authors.initials: R
authors.lastname: Flavin
authors.forename: Gerhard
authors.initials: G
authors.lastname: Jackl
authors.forename: Stephen
authors.initials: S
authors.lastname: Finn
authors.forename: Paul
authors.initials: P
authors.lastname: Smyth
authors.forename: Martina
authors.initials: M
authors.lastname: Ring
authors.forename: Esther
authors.initials: E
authors.lastname: O'Regan
authors.forename: Susanne
authors.initials: S
authors.lastname: Cahill
authors.forename: Kristian
authors.initials: K
authors.lastname: Unger
authors.forename: Karen
authors.initials: K
authors.lastname: Denning
authors.lastname: Jinghuan Li
authors.forename: Sinead
authors.initials: S
authors.lastname: Aherne
authors.forename: Giovanni
authors.initials: G
authors.lastname: Tallini
authors.forename: Eoin
authors.initials: E
authors.lastname: Gaffney
authors.forename: J J
authors.initials: JJ
authors.lastname: O'Leary
authors.forename: Horst
authors.initials: H
authors.lastname: Zitzelsberger
authors.forename: Orla
authors.initials: O
authors.lastname: Sheils
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D015415:Biomarkers / Q000032:analysis*; D002277:Carcinoma / Q000235:genetics*; D002291:Carcinoma, Papillary / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D010534:Peritoneal Neoplasms / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D015415:Biomarkers; D015514:Oncogene Proteins, Fusion; D051096:Proto-Oncogene Proteins c-ret; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf