Annals of Diagnostic Pathology
Volume 15, Issue 5 , Pages 358-361 , October 2011

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

  • Naoto Kuroda, MD

      Affiliations

    • Department of Diagnostic Pathology, Kochi Red Cross Hospital, Kochi, Japan
    • Corresponding Author InformationCorresponding author. Tel.: +81 88 822 1201; fax: +81 88 822 1056.
    • ,
  • Nobuyuki Tanida, MD

      Affiliations

    • Department of Surgery, Kochi Red Cross Hospital, Kochi, Japan
    • ,
  • Seiichi Hirota, MD

      Affiliations

    • Department of Surgical Pathology, Hyogo College of Medicine, Nishinomiya, Japan
    • ,
  • Ondrej Daum, MD

      Affiliations

    • Sikl's Department of Pathology, Charles University Hospital Plzen, Czech Republic
    • ,
  • Ondrej Hes, MD

      Affiliations

    • Sikl's Department of Pathology, Charles University Hospital Plzen, Czech Republic
    • ,
  • Michal Michal, MD

      Affiliations

    • Sikl's Department of Pathology, Charles University Hospital Plzen, Czech Republic
    • ,
  • Gang-Hong Lee, MD

      Affiliations

    • Department of Pathology, Kochi Medical School, Kochi University, Kochi, Japan

References 

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

PII: S1092-9134(10)00076-6

doi: 10.1016/j.anndiagpath.2010.05.003

Annals of Diagnostic Pathology
Volume 15, Issue 5 , Pages 358-361 , October 2011

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