An unusual case of Turcot’s syndrome associated with ileal adenocarcinoma, intestinal non-Hodgkin’s lymphoma, and duodenal adenocarcinoma. Review of the classification and genetic basis of Turcot’s syndrome

Abstract

A 38-year-old man with a history of colonic and small bowel polyposis and glioblastoma was investigated for dyspepsia. Upper GI endoscopy identified an abnormal area in the duodenum, confirmed by histology as high grade non-Hodgkin's B cell MALT lymphoma. Although cases of Turcot's syndrome (TS) (colonic polyposis and primary brain tumour occurring in the same patient) have been previously described, association with haematological malignancy is rare. This is the first report of intestinal lymphoma occurring in an adult with TS.

Pediatric duodenal cancer and biallelic mismatch repair gene mutations

“…Duodenal cancers are extremely rare with median age of diagnosis in the sixth decade of life. A systematic literature search for early onset duodenal cancers revealed five other cases (Table I), four of which had germline biallelic MMR mutations 8–12. A comprehensive literature review through PubMed revealed 50 families with germline biallelic MMR mutations (Supplemental Tables I and II).…”

Turcot's syndrome associated with intestinal non-Hodgkin's lymphoma: Case report and review of literature

“…In the other with mutations in one of the mismatch repair (MMR) genes (MSH2, MSH6, MLH1, PMS1, and PMS2), these genes are all human homologues of prokaryotic DNA mismatch repair genes and mutations in them result in defective repair of DNA thus causing tissue instability. It was confirmed by the clinical features of some patients that TS is more closely related to HNPCC [16]. This disease is characterised by fewer but larger polyps than FAP (often >3 cm).…”

“…Histology of the cerebella lesion revealed glioblastoma (1*100,HE). [15], which was characterised by the development of numerous small (<1 cm) colonic polyps from late childhood, leading to colon cancer at around 40 years of age if left untreated [16]. Patients are also over 90 times more likely to develop medulloblastoma (but not glioblastoma) than the normal population [17].…”

“…TS could have a separate and distinct aetiology from all other types of hereditary polyposis syndromes, the genetic basis of which is not yet known [16].…”

Sporadic colonic polyposis and adenocarcinoma associated with lymphoblastic and large B-cell lymphoma in a young male patient: A case report

“…Different types of colonic polyposis are associated with certain neoplasms (1,2,9). These neoplasms are mainly benign, including desmoid tumors, osteomas and epidermoid cysts (1,3,9,10), but malignancies such as thyroid cancer and upper gastrointestinal adenocarcinoma have also been reported (11)(12)(13)(14)(15)(16).…”