A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene

Familial Cancer

Volumn 6, Issue 1, 2007, Pages 141-145

  Vernez, M ^a   Hutter, P ^b   Monnerat, C ^c   Halkic, N ^c   Gugerli, O ^c   Bouzourene, H ^a  

^a UNIVERSITY INSTITUTE OF PATHOLOGY   (Switzerland)

^b Institut Central des Hopitaux Valaisans   (Switzerland)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Cholangiocarcinoma; HNPCC; MSH2; Muir Torre syndrome; Sebaceous epithelioma

Indexed keywords

GENOMIC DNA; PROTEIN MSH2;

ADULT; ARTICLE; BILE DUCT CARCINOMA; BILIARY TRACT TUMOR; BLOOD SAMPLING; BRAIN METASTASIS; CASE REPORT; COLON TUMOR; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; ENDOSCOPY; FAMILY HISTORY; FEMALE; GENE DISRUPTION; GENE MUTATION; GENETIC ANALYSIS; GERM LINE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIVER CARCINOMA; MICROSATELLITE MARKER; MISSENSE MUTATION; MUCINOUS CARCINOMA; MUIR TORRE SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; SCALP TUMOR; TUMOR BIOPSY; TUMOR VOLUME; UTERUS TUMOR;

ADENOCARCINOMA, MUCINOUS; ADENOMA; ADULT; BRAIN NEOPLASMS; CARCINOMA; CHOLANGIOCARCINOMA; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA PROBES; DNA-BINDING PROTEINS; ENDOMETRIAL NEOPLASMS; FEMALE; GERM-LINE MUTATION; HUMANS; LIVER NEOPLASMS; MICROSATELLITE INSTABILITY; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN; NEOPLASMS, MULTIPLE PRIMARY; NEOPLASTIC SYNDROMES, HEREDITARY; POLYPS; PROLINE; SEBACEOUS GLAND NEOPLASMS; SERINE; SKIN NEOPLASMS; SYNDROME;

EID: 33847106410     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-006-9105-9     Document Type: Article

References (14)

1. Muir EG, Bell AJ, Barlow KA (1967) Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face. Br J Surg 54:191-195
2. Torre D (1968) Multiple sebaceous tumors. Arch Dermatol 98:549-551
3. Schwartz RA, Torre DP (1995) The Muir-Torre syndrome: a 25-year retrospect. J Am Acad Dermatol 33:90-104
4. Ponti G, Ponz de Leon M, Maffei S et al (2005) Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet 68:442-447
5. Honchel R, Halling KC, Schaid DJ et al (1994) Microsatellite instability in Muir-Torre syndrome. Cancer Res 54:1159-1163
6. Pedroni M, Sala E, Scarselli A et al (2001) Microsatellite instability and mismatch-repair protein expression in hereditary and sporadic colorectal carcinogenesis. Cancer Res 61:896-899
7. Mangold E, Pagenstecher C, Leister M et al (2004) A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 41:567-572
8. Akhtar S, Oza KK, Khan SA et al (1999) Muir-Torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature. J Am Acad Dermatol 41:681-686
9. Boland CR, Thibodeau SN, Hamilton SR et al (1998) A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 58:5248-5257
10. Iaccarino I, Marra G, Palombo F et al (1998) hMSH2 and hMSH6 play distinct roles in mismatch binding and contribute differently to the ATPase activity of hMutSalpha. EMBO J 17:2677-2686
11. Watson P, Riley B (2005) The tumor spectrum in the Lynch syndrome. Fam Cancer 4:245-248
12. Mecklin JP, Järvinen HJ, Virolainen M (1992) The association between cholangiocarcinoma and hereditary nonpolyposis colorectal carcinoma. Cancer 69:1112-1114
13. Khan SA, Thomas HC, Davidson BR et al (2005) Cholangiocarcinoma. The Lancet 366:1303-1314
14. Kuo CM, Changchien CS, Wu KL et al (2005) Mucin-producing cholangiocarcinoma: clinical experience of 24 cases in 16 years. Scand J Gastroenterol 40:455-459