title: Rhabdoid carcinoma of the colon: a distinct entity with a very aggressive behavior: a case report associated with a polyposis coli and review of the literature.
abstract: Rhabdoid colon tumors (RCTs) are rare lesions whose existence as an independent distinct entity remains controversial. To date, 6 RCTs have been reported. This study reports a novel case associated with polyposis coli in a 73-year-old woman. Histologically, the neoplasia was heterogeneous consisting of an adenocarcinoma associated with rhabdoid features. In rhabdoid component, an intense expression of MSH2 was noted but MLH1 was negative. A BRAF V600E mutation and no KRAS mutations were identified. The promoter regions of subset of genes highly specific to characterize the CIMP status (NEUROG1, IGF2, RUNX3, SOCS1, including MLH1) were hypermethylated, suggesting the presence of CIMP+ and MSI high tumor. In conclusion, all RCTs have similar clinical features. The presence of polyposis and adenocarcinoma component as well as the expression of mesenchymal marker suggests a sarcomatous dedifferentiation. It is argued that RCT could be a very aggressive entity of colon, which could benefit from new biological colonic treatments.
authors.affiliation: Department of Pathology, Mater Salutis Hospital, ULSS 21 Legnago, Verona, Italy. remino76@yahoo.it
authors.forename: Andrea
authors.initials: A
authors.lastname: Remo
authors.forename: Caterina
authors.initials: C
authors.lastname: Zanella
authors.forename: Enrico
authors.initials: E
authors.lastname: Molinari
authors.forename: Alberto
authors.initials: A
authors.lastname: Talamini
authors.forename: Filippo
authors.initials: F
authors.lastname: Tollini
authors.forename: Paolo
authors.initials: P
authors.lastname: Piacentini
authors.forename: Paolo
authors.initials: P
authors.lastname: Battaglia
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Baritono
authors.forename: Andrea
authors.initials: A
authors.lastname: Bonetti
authors.forename: Franco
authors.initials: F
authors.lastname: Lanza
authors.forename: Antonio
authors.initials: A
authors.lastname: Fasolin
authors.forename: Erminia
authors.initials: E
authors.lastname: Manfrin
authors.forename: Roberto
authors.initials: R
authors.lastname: Vendraminelli
mesh_terms: D000230:Adenocarcinoma / Q000150:complications / Q000473:pathology* / Q000628:therapy; D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000473:pathology* / Q000628:therapy; D000368:Aged; D003110:Colonic Neoplasms / Q000150:complications / Q000473:pathology* / Q000628:therapy; D003131:Combined Modality Therapy; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D018335:Rhabdoid Tumor / Q000150:complications / Q000473:pathology* / Q000628:therapy
chemical_list: D004273:DNA, Neoplasm