Ann Coloproctol.  2013 Dec;29(6):252-255. 10.3393/ac.2013.29.6.252.

Rhabdoid Carcinoma of the Rectum

• Samalavicius NE
• Stulpinas
• Gasilionis V
• Baltruskeviciene E
• Aleknavicius E
• Mickys U

• KMID: 2046895
• DOI: http://doi.org/10.3393/ac.2013.29.6.252

Abstract

Rhabdoid colonic tumors are very rare lesions with just a few publications describing such neoplasms. Even more unusual for these lesions are their primary rectal locations, with only two brief case reports having been published on that subject to date. We present a case of a composite rhabdoid rectal carcinoma in a 49-year-old male. The tumor behaved very aggressively, with rapid patient demise despite radical surgery and intensive postoperative chemotherapy (FOLFIRI [folinic acid {leucovorin}, fluorouracil {5-fluorouracil}, and irinotecan] and FOLFOX4 [folinic acid {leucovorin}, fluorouraci {5-fluorouracil}, and oxaliplatin]). Pathologic examination was supportive of a rhabdoid carcinoma, with a compatible immunohistochemical profile, demonstrating synchronous expression of vimentin and epithelial markers in the tumor cells. In addition, BRAF V600E gene mutation, together with a wild-type KRAS gene, was identified, and no evidence of microsatellite instability based on MLH1, MSH2, MSH6, and PMS2 immunophenotypes, i.e., no loss of expression for all 4 markers, was observed. Our reported case confirms previously published observations of the clinical aggressiveness and the poor therapeutic response for rhabdoid tumors.

Keyword

Rhabdoid tumor; Carcinoma; Rectum; BRAF; INI1

MeSH Terms

Colon
Drug Therapy
Fluorouracil
Humans
Male
Microsatellite Instability
Middle Aged
Rectum*
Rhabdoid Tumor
Vimentin
Fluorouracil
Vimentin