Hereditary and non-hereditary syndromic gastointestinal stromal tumours;Hereditäre und nichthereditäre syndromale gastrointestinale Stromatumoren

Pathologe

Volumn 31, Issue 6, 2010, Pages 430-437

  Agaimy, A ^a   Hartmann, A ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Carney triad; Germline mutation; GIST; GIST paraganglioma syndrome; Recklinghausen's disease

Indexed keywords

ADULT; AGED; ARTICLE; CARNEY COMPLEX; CLASSIFICATION; DIFFERENTIAL DIAGNOSIS; GASTROINTESTINAL STROMAL TUMOR; GENETICS; HUMAN; MIDDLE AGED; MUTATION; ONSET AGE; PATHOLOGY; SYNDROME;

ADULT; AGE OF ONSET; AGED; CARNEY COMPLEX; DIAGNOSIS, DIFFERENTIAL; GASTROINTESTINAL STROMAL TUMORS; GERM-LINE MUTATION; HUMANS; MIDDLE AGED; MUTATION; SYNDROME;

EID: 79952775806     PISSN: 01728113     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00292-010-1354-6     Document Type: Article

References (42)

1. Agaimy A, Wünsch PH, Sobin LH et al (2006) Occurrence of other malignancies in patients with gastrointestinal stromal tumors. Semin Diagn Pathol 23:120-129
2. Agaimy A, Wünsch PH, Hofstaedter F et al (2007) Minute gastric sclerosing stromal tumors (GIST tumorlets) are common in adults and frequently show c-KIT mutations. Am J Surg Pathol 31:113-120
3. Agaimy A, Märkl B, Arnholdt H et al (2009) 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 455:101-108
4. Agaimy A, Märkl B, Arnholdt H et al (2010) Sporadic segmental interstitial cell of cajal hyperplasia (microscopic GIST) with unusual diffuse longitudinal growth replacing the muscularis propria: Differential diagnosis to hereditary GIST syndromes. Int J Clin Exp Pathol 3:549-556
5. Campbell T, Felsten L, Moore J (2009) Disappearance of lentigines in a patient receiving imatinib treatment for familial gastrointestinal stromal tumor syndrome. Arch Dermatol 145:1313-1316
6. Carney JA, Sheps SG, Go V L W, Gordon H (1977) The triad of gastric leiomyosarcoma, functioning extraadrenal paraganglioma and pulmonary chondroma. N Engl J Med 296:1517-1518
7. Carney JA (1999) Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney triad): natural history, adrenocortical component, and possible familial occurrence. Mayo Clin Proc 74:543-552
8. Carney JA, Stratakis CA (2008) Stromal, fibrous, and fatty gastrointestinal tumors in a patient with a PDGFRA gene mutation. Am J Surg Pathol 32:1412-1420
9. Chen H, Hirota S, Isozaki K et al (2002) Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours. Gut 51:793-796
10. Chompret A, Kannengiesser C, Barrois M et al (2004) PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology 126:318-321
11. Eng C, Kiuru M, Fernandez MJ, Aaltonen LA (2003) A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer 3:193-202
12. Erlic Z, Neumann HP (2009) Familial pheochromocytoma. Hormones 8:29-38
13. Gill AJ, Chou A, Vilain R et al (2010) Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. Am J Surg Pathol 34:636-644
14. Graham J, Debiec-Rychter M, Corless CL et al (2007) Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation. Arch Pathol Lab Med 131:1393-1396
15. Haller F, Schulten HJ, Armbrust T et al (2007) 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 31:933-937
16. Heinrich MC, Rubin B P, Longley BJ, Fletcher JA (2002) Biology and genetic aspects of gastrointestinal stromal tumors: KIT activation and cytogenetic alterations. Hum Pathol 33:484-495
17. Kindblom LG, Remotti HE, Aldenborg F, Meis-Kindblom JM (1998) Gastrointestinal pacemaker cell tumor (GIPACT): Gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal. Am J Pathol 152:1259-1269
18. Lamba M, Verma S, Prokopetz R et al (2005) Multiple cutaneous and uterine leiomyomas associated with gastric GIST. J Cutan Med Surg 9:332-335
19. Lasota J, Miettinen M (2006) KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs). Semin Diagn Pathol 23:91-102
20. Li F P, Fletcher JA, Heinrich MC et al (2005) Familial gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred. J Clin Oncol 23:2735-2743
21. Lynch HT, Deters CA, Hogg D et al (2003) Familial sarcoma: challenging pedigrees. Cancer 98:1947-1957
22. Malek R, McCarthy-Keith D, Levens ED et al (2008) A gastrointestinal stromal tumor in a patient with multiple endocrine neoplasia type 2A and metastatic medullary thyroid cancer to the ovaries. Endocr Pract 14:898-901
23. Matyakhina L, Bei TA, McWhinney SR et al (2007) Genetics of carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors. J Clin Endocrinol Metab 92:2938-2943
24. Miettinen M, Sobin LH, Lasota J (2005) Gastrointestinal stromal tumors of the stomach: a clinicopathologic, immunohistochemical, and molecular genetic study of 1765 cases with long-term followup. Am J Surg Pathol 29:52-68
25. Miettinen M, Lasota J, Sobin LH (2005) Gastrointestinal stromal tumors of the stomach in children and young adults: a clinicopathologic, immunohistochemical, and molecular genetic study of 44 cases with long-term follow-up and review of the literature. Am J Surg Pathol 29:1373-1381
26. Miettinen M, Lasota J (2006) Gastrointestinal stromal tumors: pathology and prognosis at different sites. Semin Diagn Pathol 23:70-83
27. Miettinen M, Fetsch JF, Sobin LH et al (2006) Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol 30:90-96
28. Miettinen M, Kraszewska E, Sobin LH, Lasota J (2008) A nonrandom association between gastrointestinal stromal tumors and myeloid leukemia. Cancer 112:645-649
29. Ngadiman S, Horenstein MG, Campbell WG Jr (1994) The concurrence of duodenal epithelioid stromal sarcoma, pulmonary chondromatous hamartoma, and nonfunctioning pancreatic islet cell tumor. A possible analogue of Carney's triad? Arch Pathol Lab Med 118:840-843
30. Papillon E, Rolachon A, Calender A et al (2001) A malignant gastrointestinal stromal tumour in a patient with multiple endocrine neoplasia type 1. Eur J Gastroenterol Hepatol 13:207-211
31. Pasini B, McWhinney SR, Bei T et al (2008) Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet 16:79-88
32. Perez-Atayde AR, Shamberger RC, Kozakewich HW (1993) Neuroectodermal differentiation of the gastrointestinal tumors in the Carney triad. An ultrastructural and immunohistochemical study. Am J Surg Pathol 17:706-714
33. Perry CG, Young WF Jr, McWhinney SR et al (2006) Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women: syndrome or coincidence. Am J Surg Pathol 30:42-49
34. Rodriguez FJ, Aubry MC, Tazelaar HD et al (2007) Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. Am J Surg Pathol 31:1844-1853
35. Stratakis CA, Carney JA (2009) The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med 266:43-52
36. Torres-Cabala CA, Wang WL et al (2009) Correlation between KIT expression and KIT mutation in melanoma: a study of 173 cases with emphasis on the acral-lentiginous/mucosal type. Mod Pathol 22:1446-1456
37. Tzankov A, Schwanninger J, Mikuz G, Mairinger T (2003) Atypical Carney's triad with coincidental clear cell renal carcinoma in an 84-year old patient-a finding at autopsy. Cancer Detect Prev 27:256-258
38. Veiga I, Silva M, Vieira J et al (2010) Hereditary gastrointestinal stromal tumors sharing the KIT Exon 17 germline mutation p. Asp820Tyr develop through different cytogenetic progression pathways. Genes Chromosomes Cancer 49:91-98
39. Wardelmann E, Hrychyk A, Merkelbach-Bruse S et al (2004) 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 6:197-204
40. Wozniak A, Rutkowski P, Sciot R et al (2008) Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation. Int J Cancer 122:2160-2164
41. Yaman E, Coskun U, Benekli M et al (2008) Coexistence of gastrointestinal stromal tumor (GIST) of the rectum and adenocarcinoma of the prostate in a patient with familial GIST. Onkologie 31:697-699
42. Zhang L, Smyrk TC, Young WF Jr et al (2010) Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. Am J Surg Pathol 34:53-64