Sporadic segmental interstitial cell of cajal hyperplasia (microscopic GIST) with unusual diffuse longitudinal growth replacing the muscularis propria: Differential diagnosis to hereditary GIST syndromes

International Journal of Clinical and Experimental Pathology

Volumn 3, Issue 5, 2010, Pages 549-556

  Agaimy, Abbas ^a   Märkl, Bruno ^b   Arnholdt, Hans ^b   Hartmann, Arndt ^a   Schneider Stock, Regine ^a   Chetty, Runjan ^c  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b KLINIKUM AUGSBURG   (Germany)

^c UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

GIST; Hereditary GIST; ICC hyperplasia; KIT mutation; Meckel diverticulum

Indexed keywords

STEM CELL FACTOR RECEPTOR;

ABDOMINAL SURGERY; AGED; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENETICS; HUMAN; HYPERPLASIA; INTERSTITIAL CELL OF CAJAL; INTESTINE MUCOSA; MALE; MIDDLE AGED; PATHOLOGY; POLYMERASE CHAIN REACTION; GASTROINTESTINAL STROMAL TUMORS;

AGED; DIAGNOSIS, DIFFERENTIAL; DIGESTIVE SYSTEM SURGICAL PROCEDURES; FEMALE; GASTROINTESTINAL STROMAL TUMORS; HUMANS; HYPERPLASIA; INTERSTITIAL CELLS OF CAJAL; INTESTINAL MUCOSA; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS C-KIT;

EID: 77956015855     PISSN: None     EISSN: 19362625     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. Nilsson B, Bümming P, Meis-Kindblom JM, Odén A, Dortok A, Gustavsson B, Sablinska K, Kindblom LG. Gastrointestinal stromal tumors: the incidence, prevalence, clinical course, and prognostication in the preimatinib mesylate era-a population-based study in western Sweden. Cancer 2005; 103:821-9.
2. Miettinen M, Lasota J. Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin Diagn Pathol 2006;23:70-83.
3. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y, Shinomura Y, Kitamura Y. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998;279:577-80.
4. Kim TW, Lee H, Kang YK, Choe MS, Ryu MH, Chang HM, Kim JS, Yook JH, Kim BS, Lee JS. Prognostic significance of c-kit mutation in localized gastrointestinal stromal tumors. Clin Cancer Res 2004;10:3076-81.
5. Heinrich MC, Corless CL, Duensing A, et al. PDGFRA Activating mutations in gastrointestinal stromal tumors. Science 2003;299:708-710.
6. Wardelmann E, Hrychyk A, Merkelbach-Bruse S, Pauls K, Goldstein J, Hohenberger P, Losen I, Manegold C, Büttner R, Pietsch T. Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumors. J Mol Diagn 2004;6:197-204.
7. Agaimy A, Wünsch PH. Gastrointestinal stromal tumours: a regular origin in the muscularis propria, but an extremely diverse gross presentation. A review of 200 GISTs to critically re-evaluate the concept of so-called extragastrointestinal stromal tumours. Langenbecks Arch Surg 2006;391:322-29.
8. Kosmidis C, Efthimiadis C, Levva S, Anthimidis G, Baka S, Grigoriou M, Tzeveleki I, Masmanidou M, Zaramboukas T, Basdanis G. Synchronous colorectal adenocarcinoma and gastrointestinal stromal tumor in Meckel's diverticulum; an unusual association. World J Surg Oncol 2009;7:33.
9. Gupta N, Schirmer BD, Mishra R, Shami VM. Malignant GIST masquerading as a bleeding duodenal diverticulum. Endoscopy 2007;39 Suppl 1:E142-3.
10. Kindblom L-G, Remotti HE, Aldenborg F, Meis-Kindblom JM. Gastrointestinal pacemaker cell tumor (GIPACT): Gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal Am J Pathol 1998;152:1259-1269.
11. Streutker CJ, Huizinga JD, Driman DK, Riddell RH. Interstitial cells of Cajal in health and disease. Part II: ICC and gastrointestinal stromal tumours. Histopathology 2007;50:190-202.
12. Agaimy A, Wünsch P.H. Sporadic Cajal cell hyperplasia is common in resection specimens for distal oesophageal carcinoma. A retrospective review of 77 consecutive surgical resection specimens. Virchows Arch 2006;448:288-294.
13. Agaimy A, Wünsch PH, Dirnhofer S, Bihl MP, Terracciano LM, Tornillo L. Microscopic gastrointestinal stromal tumors in esophageal and intestinal surgical resection specimens. A clinicopathologic, immunohistochemical, and molecular study of 19 lesions. Am J Surg Pathol 2008;32:867-73.
14. Hirota S, Okazaki T, Kitamura Y et al. Cause of familial and multiple gastrointestinal autonomic tumor with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene. Am J Surg Pathol 2002;24:326-327.
15. Chompret A, Kannengiesser C, Barrois M, et al. PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology 2004;126:318-321.
16. Miettinen M, Fetsch JF, Sobin LH, et al. Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol 2006;30:90-96.
17. Kawanowa K, Sakuma Y, Sakurai S, Hishima T, Iwasaki Y, Saito K, Hosoya Y, Nakajima T, Funata N. High incidence of microscopic gastrointestinal stromal tumors in the stomach. Hum Pathol 2006;37:1527-1535.
18. Abraham SC, Krasinskas AM, Hofstetter WL, Swisher SG, Wu TT. "Seedling" mesenchymal tumors (gastrointestinal stromal tumors and leiomyomas) are common incidental tumors of the esophagogastric junction. Am J Surg Pathol 2007;31:1629-35.
19. Wardelmann E, Neidt I, Bierhoff E, Speidel N, Manegold C, Fischer HP, Pfeifer U, Pietsch T. ckit mutations in gastrointestinal stromal tumors occur preferentially in the spindle rather than in the epithelioid cell variant. Mod Pathol 2002;15:125-36.
20. Chen H, Hirota S, Isozaki K, et al. Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours. Gut 2002;51:793-6.
21. Kinoshita K, Hirota S, Isozaki K, Ohashi A, Nishida T, Kitamura Y, Shinomura Y, Matsuzawa Y. Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients. J Pathol 2004;202:80-5.
22. Haller F, Schulten HJ, Armbrust T, Langer C, Gunawan B, Füzesi L. Multicentric sporadic gastrointestinal stromal tumors (GISTs) of the stomach with distinct clonal origin: differential diagnosis to familial and syndromal GIST variants and peritoneal metastasis. Am J Surg Pathol. 2007;31:933-7.
23. Agaimy A, Dirnhofer S, Wünsch PH, Terracciano LM, Tornillo L, Bihl MP. 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;32:1553-9.
24. Agaimy A, Märkl B, Arnholdt H, Wünsch PH, Terracciano LM, Dirnhofer S, Hartmann A, Tornillo L, Bihl MP. Multiple sporadic gastrointestinal stromal tumours arising at different gastrointestinal sites: pattern of involvement of the muscularis propria as a clue to independent primary GISTs. Virchows Arch 2009;455:101-8.
25. Woźniak A, Rutkowski P, Sciot R, Ruka W, Michej W, Debiec-Rychter M. Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation. Int J Cancer 2008;122:2160-4.
26. Jeng YM, Mao TL, Hsu WM, Huang SF, Hsu HC. Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia. Am J Surg Pathol 2000;24:1568-72.
27. Schepers S, Vanwyck R. Small bowel gastrointestinal stromal tumor (GIST) arising in a jejunal diverticulum. JBR-BTR 2009;92:23-4.
28. Chetty R. Small and microscopically detected gastrointestinal stromal tumours: an overview. Pathology 2008;40:9-12.
29. Perez-Atayde AR, Shamberger RC, Kozakewich HW. Neuroectodermal differentiation of the gastrointestinal tumors in the Carney triad. An ultrastructural and immunohistochemical study. Am J Surg Pathol 1993;17:706-14.
30. Corless CL, McGreevey L, Haley A, Town A, Heinrich MC. KIT mutations are common in incidental gastrointestinal stromal tumors one centimeter or less in size. Am J Pathol 2002;160:1567-72.
31. Agaimy A, Wünsch PH, Hofstaedter F, Blaszyk H, Rümmele P, Gaumann A, Dietmaier W and Hartmann A. Minute gastric sclerosing stromal tumors (GIST tumorlets) are common in adults and frequently show c-KIT mutations. Am J Surg Pathol 2007;31: 113-20.