Familial gastrointestinal stromal tumor with germ line mutation of the juxtamembrane domain of the KIT gene observed in relatively young women

Annals of Diagnostic Pathology

Volumn 15, Issue 5, 2011, Pages 358-361

  Kuroda, Naoto ^a   Tanida, Nobuyuki ^a   Hirota, Seiichi ^b   Daum, Ondrej ^c   Hes, Ondrej ^c   Michal, Michal ^c   Lee, Gang Hong ^d  

^a KOCHI RED CROSS HOSPITAL   (Japan)

^b HYOGO COLLEGE OF MEDICINE   (Japan)

^c CHARLES UNIVERSITY   (Czech Republic)

^d KOCHI UNIVERSITY   (Japan)

Author keywords

Exon 11; Familial gastrointestinal stromal tumor; Germ line mutation; KIT gene

Indexed keywords

STEM CELL FACTOR;

ABDOMINAL PAIN; ADULT; ARTICLE; CANCER DIAGNOSIS; CANCER SURGERY; CASE REPORT; COLON RESECTION; COLON TUMOR; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; FOLLOW UP; GASTROINTESTINAL STROMAL TUMOR; GENE; GENE MUTATION; GERM LINE; HISTOPATHOLOGY; HUMAN; IMAGE ANALYSIS; INTESTINE RESECTION; JAPANESE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; SMALL INTESTINE TUMOR; TUMOR VOLUME;

ADULT; EXONS; FEMALE; GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; GERM-LINE MUTATION; HUMANS; HYPERPLASIA; INTERSTITIAL CELLS OF CAJAL; MUTATION, MISSENSE; PROTO-ONCOGENE PROTEINS C-KIT;

EID: 80052848917     PISSN: 10929134     EISSN: 15328198     Source Type: Journal    
DOI: 10.1016/j.anndiagpath.2010.05.003     Document Type: Article

References (26)

1. Nishida T., Hirota S., and Taniguchi M. Familial gastrointestinal stromal tumours with germ line mutation of the KIT gene Nat Genet 19 1998 323 324 (Pubitemid 28357901)
2. Hirota S., Okazaki T., and Kitamura Y. Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germ line mutation of the c-kit gene Am J Surg Pathol 24 2000 326 327 (Pubitemid 30078733)
3. Isozaki K., Terris B., and Belghiti J. Germ line-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors Am J Pathol 157 2000 1581 1585
4. Maeyama H., Hidaka E., and Oda H. Familial gastrointestinal stromal tumor with hyperpigmentation: association with a germ line mutation of the c-kit gene Gastroenterology 120 2001 210 215 (Pubitemid 32061885)
5. Beghni A., Tibiletti M.G., and Roversi G. Germ line mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa Cancer 92 2001 657 662 (Pubitemid 32735203)
6. Hirota S., Nishida T., and Isozaki K. Familial gastrointestinal stromal tumors associated with dysphagia and novel type germ line mutation of KIT gene Gastroenterology 122 2002 1493 1499 (Pubitemid 34465189)
7. Robson M.E., Gogowski E., and Sommer G. Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia Clin Cancer Res 10 2004 1250 1254 (Pubitemid 38365214)
8. Compret A., Kannengiesser C., and Barrois M. PDGFRA germ line mutation in a family with multiple cases of gastrointestinal stromal tumor Gastroenterology 126 2004 318 321 (Pubitemid 38040746)
9. Carballo M., Roig I., and Aguilar F. Novel c-KIT germ line mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation Am J Med Genet A 132 2005 361 364 (Pubitemid 40175584)
10. Hartmann K., Wardelmann E., and Ma Y. Novel germ line mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis Gastroenterology 129 2005 1042 1046 (Pubitemid 41242694)
11. Kim H.J., Lim S.J., and Park K. Multiple gastrointestinal stromal tumors with a germ line c-kit mutation Pathol Int 55 2005 655 659 (Pubitemid 41726951)
12. Li F.P., Fletcher J.A., and Heinrich M.C. Familial gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred J Clin Oncol 23 2005 2735 2743 (Pubitemid 46179463)
13. O'Riain C., Corless C.L., and Heinrich M.C. Gastrointestinal stromal tumors: insights for a new familial GIST kindred with unusual genetic and pathologic features Am J Surg Pathol 29 2005 1680 1683
14. Tarn C., Merkel E., and Canutescu A.A. Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling Clin Cancer Res 11 2005 3668 3677 (Pubitemid 40685583)
15. Lasota J., and Miettinen M. A new familial GIST identified Am J Surg Pathol 30 2006 1342
16. de Raedt T., Cools J., and Debiec-Rychter M. Intestinal neurofibromatosis is a subtype of familial GIST and results from dominant activating mutation in PDGFRA Gastroenterology 131 2006 1907 1912 (Pubitemid 44958505)
17. Kang D.Y., Park C.K., and Choi J.S. Multiple gastrointestinal stromal tumors: clinicopathologic and genetic analysis of 12 patients Am J Surg Pathol 31 2007 224 232 (Pubitemid 46175023)
18. Graham J., Debiec-Rychter M., and Corless C.L. Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germ line KIT K642E mutation Arch Pathol Lab Med 131 2007 1393 1396 (Pubitemid 47427594)
19. Thalheimer A., Schlemmer M., and Bueter M. Familial gastrointestinal stromal tumors caused by the novel KIT Exon 17 germ line mutation N822Y Am J Surg Pathol 32 2008 1560 1565
20. Wozniak A., Rutkowski P., and Sciot R. Rectal gastrointestinal stromal tumors associated with a novel germ line KIT mutation Int J Cancer 122 2008 2160 2164 (Pubitemid 351441210)
21. Miettinen M., and Lasota J. Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis Arch Pathol Lab Med 130 2006 1466 1478 (Pubitemid 44520713)
22. Rubin B.P. Gastrointestinal stromal tumours: an update Histopathology 48 2006 83 96
23. Lasota J., and Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours Histopathology 53 2008 245 266
24. Kawanowa K., Samuma Y., and Sakurai S. High incidence of microscopic gastrointestinal stromal tumors in the stomach Hum Pathol 37 2006 1527 1535 (Pubitemid 44792229)
25. Haller F., Schulten H.J., and Armbrust T. Multicentric sporadic gastrointestinal stromal tumors (GISTs) of the stomach with distinct and syndromal GIST variants and peritoneal metastasis Am J Surg Pathol 31 2007 933 937 (Pubitemid 47165149)
26. Agaimy A., Dirnhofer S., and Wunsch P.H. Multiple sporadic gastrointestinal stromal tumors (GISTs) of the proximal stomach are caused by different somatic KIT mutations suggesting a field effect Am J Surg Pathol 32 2008 1553 1559