A novel germline mutation of the LKB1 gene in a patient with Peutz-Jeghers syndrome with early-onset gastric cancer

Journal of Gastroenterology

Volumn 39, Issue 12, 2004, Pages 1210-1214

  Takahashi, Masanobu ^a   Sakayori, Masato ^a   Takahashi, Shin ^a   Kato, Taku ^b   Kaji, Mitsuji ^a   Kawahara, Masanori ^a   Suzuki, Takao ^a   Kato, Satoshi ^a   Kato, Shunsuke ^a   Shibata, Hiroyuki ^a   Murakawa, Yasuko ^a   Yoshioka, Takashi ^a   Ishioka, Chikashi ^a  

^a TOHOKU UNIVERSITY   (Japan)

^b Iwate Prefectural Isawa Hospital   (Japan)

Author keywords

Gastric cancer; Germline mutation; Immunohistochemistry; LKB1 gene; Peutz Jeghers syndrome

Indexed keywords

GENOMIC DNA; PROTEIN KINASE LKB1;

ABDOMINAL PAIN; ABDOMINAL SURGERY; ADOLESCENT; ARTICLE; AUTOPSY; CARCINOMA CELL; CASE REPORT; DEATH; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GASTROINTESTINAL BIOPSY; GASTROINTESTINAL ENDOSCOPY; GERM LINE; HAMARTOMA; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTESTINE INTUSSUSCEPTION; INTESTINE POLYP; LIVER METASTASIS; LUNG METASTASIS; LYMPH NODE METASTASIS; MULTIPLE CANCER; ONSET AGE; PEUTZ JEGHERS SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; RESPIRATORY FAILURE; STOMACH ADENOCARCINOMA; STOMACH CANCER; STOMACH CARCINOGENESIS;

ADOLESCENT; DISEASE PROGRESSION; FEMALE; FRAMESHIFT MUTATION; GERM-LINE MUTATION; HUMANS; PEUTZ-JEGHERS SYNDROME; PROTEIN-SERINE-THREONINE KINASES; STOMACH NEOPLASMS;

EID: 19944428517     PISSN: 09441174     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00535-004-1474-y     Document Type: Article

References (20)

1. Peutz JL. On a very remarkable case of familial polyposis of the mucous membrane of the intestinal tract and nasopharynx accompanied by peculiar pigmentation of the skin and mucous membrane. Ned Tijdschr Geneeskd 1921;10:134-46.
2. Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits: A syndrome of diagnostic significance. N Engl J Med 1949;241:992-1005.
3. Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 1987;316:1511-4.
4. Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998;18:38-43.
5. Spigelman AD, Murday V, Phillips RK. Cancer and the Peutz-Jeghers syndrome. Gut 1989;30:1588-90.
6. Boardman LA, Thibodeau SN, Schaid DJ, Lindor NM, McDonnell SK, Burgart LJ, et al. Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 1998; 128:896-9.
7. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000;119: 1447-53.
8. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 1998;391:184-7.
9. Karuman P, Gozani O, Odze RD, Zhou XC, Zhu H, Shaw R, et al. The Peutz-Jegher gene product LKB1 is a mediator of p53-dependent cell death. Mol Cell 2001;7:1307-19.
10. Ylikorkala A, Rossi DJ, Korsisaari N, Luukko K, Alitalo K, Henkemeyer M, et al. Vascular abnormalities and deregulation of VEGF in Lkb1-deficient mice. Science 2001;293:1323-6.
11. Miyoshi H, Nakau M, Ishikawa TO, Seldin MF, Oshima M, Taketo MM. Gastrointestinal hamartomatous polyposis in Lkb1 heterozygous knockout mice. Cancer Res 2002;62:2261-6.
12. Jishage K, Nezu J, Kawase Y, Iwata T, Watanabe M, Miyoshi A, et al. Role of Lkb1, the causative gene of Peutz-Jegher's syndrome, in embryogenesis and polyposis. Proc Natl Acad Sci U S A 2002;99:8903-8.
13. Bardeesy N, Sinha M, Hezel AF, Signoretti S, Hathaway NA, Sharpless NE, et al. Loss of the Lkb1 tumour suppressor provokes intestinal polyposis but resistance to transformation. Nature 2002;419:162-7.
14. Martin SG, St Johnston D. A role for Drosophila LKB1 in anterior-posterior axis formation and epithelial polarity. Nature 2003;421:379-84.
15. Ylikorkala A, Avizienyte E, Tomlinson IP, Tiainen M, Roth S, Loukola A, et al. Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet 1999;8:45-51.
16. Boardman LA, Couch FJ, Burgart LJ, Schwartz D, Berry R, McDonnell SK, et al. Genetic heterogeneity in Peutz-Jeghers syndrome. Hum Mutat 2000;16:23-30.
17. Gruber SB, Entius MM, Petersen GM, Laken SJ, Longo PA, Boyer R, et al. Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. Cancer Res 1998;58:5267-70.
18. Miyaki M, Iijima T, Hosono K, Ishii R, Yasuno M, Mori T, et al. Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome. Cancer Res 2000;60:6311-3.
19. Entius MM, Keller JJ, Westerman AM, van Rees BP, van Velthuysen ML, de Goeij AF, et al. Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome. J Clin Pathol 2001;54:126-31.
20. Ghaffar H, Sahin F, Sanchez-Cepedes M, Su GH, Zahurak M, Sidransky D, et al. LKB1 protein expression in the evolution of glandular neoplasia of the lung. Clin Cancer Res 2003;9:2998-3003.