FaCD Online Syndrome Fact Sheet

Last updated: 13 Jan 2011

Name: Turcot syndrome

Synonym: Brain tumor-colorectal polyp(osis) syndrome

Mode of Inheritance: AR / AD

Genes

APC, mapped to 5q21-q22
MLH1, mapped to 3p21.3
MSH2, mapped to 2p21-p22
MSH6, mapped to 2p16
PMS2, mapped to 7p22

Tumor features

astrocytoma
craniopharyngioma
craniopharyngioma (ectopic)
gastrointestinal cancer
gastrointestinal polyps
glioma of the brain
medulloblastoma

Non-tumor features

café au lait spots

Comment

Traditionally, Turcot syndrome has been regarded as an autosomal recessive condition with brain tumors and colorectal polyposis as its hallmarks. However the name has also been used by some to refer to familial cases that fit autosomal dominant inheritance. In addition to cases with florid polyposis, sporadic and familial cases with brain tumors and a less abundant number of colonic polyps have been reported as well[1].[2-15].

In a review of published cases, Paraf et al.[16] recognized 2 distinct groups:

Brain Tumor-Polyposis syndrome, type 1
Gliomas (predominantly astrocytomas) + colorectal adenomas without polyposis, including siblings with glioma and/or colorectal adenomas. Most cases are probably due to constitutional mismatch repair deficiency syndrome [e.g. see 17].

Brain Tumor-Polyposis syndrome type 2
Central nervous system tumor (predominantly medulloblastoma) + familial adenomatous polyposis (including the Gardner syndrome variant). In this category germline mutations in the APC gene may be detected[18-20].

It remains to be seen whether an autosomal recessive type, not associated with APC or MMR-gene mutations, exists as well[1,21,22].

References

[1] Van Meir EG. ''Turcot's syndrome'': phenotype of brain tumors, survival and mode of inheritance. Int J Cancer 75[1], 162-164. 1998.
[2] Shalon L, Markowitz J, Bialer M, Kahn E, Weinblatt M, Giardiello FM, Luce MC, Daum F. Ovarian neoplasm and endometrioid carcinoma in a patient with Turcot syndrome. J Pediatr Gastroenterol Nutr 25[2], 224-227. 1997.
[3] Merlo A, Rochlitz C, Scott R. Survival of patients with Turcot's syndrome and glioblastoma. N Engl J Med 1996; 334:736-737.
[4] Schneider T, Victor S. The Turcot syndrome (glioma polyposis) and its neurosurgical significance. Case report. Neurosurg Rev 1993; 16(4):327-330.
[5] Itoh H, Hirata K, Ohsato K. Turcot's syndrome and familial adenomatous polyposis associated with brain tumor: review of related literature. Int J Colorectal Dis 1993; 8(2):87-94.
[6] Zink PM, Tatagiba M, Samii M, Brandis A, Dankoweit Timpe E. [Turcot syndrome illustrated by two clinical cases]. Nervenarzt 1992; 63(8):506-509.
[7] Vellutini EA, Pahl FH, Vieira MJ, De Aguiar PH, Vellutini DF, De Almeida GM, Habr Gama A. [Turcot syndrome: a report of 2 cases]. Arq Neuropsiquiatr 1990; 48(1):102-106.
[8] Tithecott GA, Filler R, Sherman PM. Turcot's syndrome: a diagnostic consideration in a child with primary adenocarcinoma of the colon. J Pediatr Surg 1989; 24(11):1189-1191.
[9] Iriarte Garcia Baquero LM, Fernandez Valverde A, Cruz Guerrero G, Gutierrez Benjumea A, Chinchon Lara I, Martinez Parra D, Miranda Nieves G. [Turcot syndrome. 2 new cases in siblings]. An Esp Pediatr 1989; 30(3):223-224.
[10] Scribano E, Loria G, Ascenti G, Cardia E, Molina D, Gaeta M. Turcot's syndrome: a new case in the first decade of life. Abdom Imaging 1995; 20(2):155-156.
[11] Peserico L, Merli GA, Cortesi N, Canossi GC, Crisi G. The Turcot syndrome. Case report. Ital J Neurol Sci 1981; 2(4):391-393.
[12] Cervoni L, Celli P, Tarantino R, Fortuna A. Turcot's syndrome: case report and review of the classification. J Neurooncol 1995; 23(1):63-66.
[13] Schroder S, Moehrs D, von Weltzien J, Winkler R, Otto HF. The Turcot syndrome. Report of an additional case and review of the literature. Dis Colon Rectum 1983; 26(8):533-538.
[14] Stevens MJ, Flanagan BT. Turcot's syndrome. Med J Aust 1986; 144(8):433-435.
[15] Herrera Ornelas L, Ochi H, Petrelli N, Mittelman A, Sandberg AA. Nonfamilial Turcot's syndrome associated with Turner's syndrome, multiple carcinomas of the tongue, and cancer of the colon. J Surg Oncol 1984; 27(4):251-254.
[16] Paraf F, Jothy S, VanMeir EG. Brain tumor-polyposis syndrome: Two genetic diseases? J Clin Oncol 15[7], 2744-2758. 1997.
[17] De Rosa M, Fasano C, Panariello L, Scarano MI, Belli G, Iannelli A, Ciciliano F, Izzo P. Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene 2000; 19(13):1719-1723.
[18] Lasser DM, Devivo DC, Garvin J, Wilhelmsen KC. Turcot's syndrome: Evidence for linkage to the adenomatous polyposis coli (APC) locus. Neurology 1994; 44:1083-1086.
[19] Mori T, Nagase H, Horii A, Miyoshi Y, Shimano T, Nakatsuru S, Aoki T, Arakawa H, Yanagisawa A, Ushio Y, et al. Germ-line and somatic mutations of the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors. Gene Chrom Cancer 1994; 9(3):168-172.
[20] Foulkes WD. A tale of four syndromes: Familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. Qjm Mon J Assoc Physician 1995; 88:853-863.
[21] Costa OL, Silva DM, Colnago FA, Vieira MS, Musso C. Turcot syndrome. Autosomal dominant or recessive transmission? Dis Colon Rectum 1987; 30(5):391-394.
[22] Itoh H, Ohsato K, Yao T, Iida M, Watanabe H. Turcot's syndrome and its mode of inheritance. Gut 1979; 20(5):414-419.