Hereditary gastrointestinal stromal tumors sharing the KIT exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways

Genes Chromosomes and Cancer

Volumn 49, Issue 2, 2010, Pages 91-98

  Veiga, Isabel ^a   Silva, Mara ^a   Vieira, Joana ^a   Pinto, Carla ^a   Pinheiro, Manuela ^a   Torres, Lurdes ^a   Soares, Marta ^a   Santos, Lúcio ^a   Duarte, Hugo ^a   Bastos, Artur L ^a   Coutinho, Camila ^b   Dinis, José ^a   Lopes, Carlos ^a,c   Teixeira, Manuel R ^a,c  

^a PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^b Hospital Senhora da Oliveira   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; IMATINIB; STEM CELL FACTOR;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CANCER GROWTH; CANCER SUSCEPTIBILITY; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME 15Q; CHROMOSOME 1P; CHROMOSOME BANDING PATTERN; CHROMOSOME LOSS; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; EXON; FAMILIAL CANCER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GASTRECTOMY; GASTROINTESTINAL STROMAL TUMOR; GENETIC COUNSELING; GENETIC PREDISPOSITION; GERM LINE; HUMAN; HUMAN TISSUE; INTESTINE RESECTION; MALE; METASTASIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RELATIVE;

AMINO ACID SUBSTITUTION; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; EXONS; FAMILY; FEMALE; GASTROINTESTINAL STROMAL TUMORS; GERM-LINE MUTATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; PEDIGREE; PIGMENTATION DISORDERS; POSITRON-EMISSION TOMOGRAPHY; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA;

EID: 75149193619     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20720     Document Type: Article

References (45)

1. Beghini A, Tibiletti MG, Roversi G, Chiaravalli AM, Serio G, Capella C, Larizza L. 2001. Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. Cancer 92:657-662.
2. Carballo M, Roig I, Aguilar F, Pol MA, Gamundi MJ, Hernan I, Martinez-Gimeno M. 2005. Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation. Am J Med Genet A 132:361-364.
3. Chen H, Hirota S, Isozaki K, Sun H, Ohashi A, Kinoshita K, O'Brien P, Kapusta L, Dardick I, Obayashi T, Okazaki T, Shinomura Y, Matsuzawa Y, Kitamura Y. 2002. Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours. Gut 51:793-796.
4. Chen H, Isozaki K, Kinoshita K, Ohashi A, Shinomura Y, Matsuzawa Y, Kitamura Y, Hirota S. 2003. Imatinib inhibits various types of activating mutant kit found in gastrointestinal stromal tumors. Int J Cancer 105:130-135.
5. Chen LL, Holden JA, Choi H, Zhu J, Wu EF, Jones KA, Ward JH, Andtbacka RH, Randall RL, Scaife CL, Hunt KK, Prieto VG, Raymond AK, Zhang W, Trent JC, Benjamin RS, Frazier ML. 2008. Evolution from heterozygous to homozygous KIT mutation in gastrointestinal stromal tumor correlates with the mechanism of mitotic nondisjunction and significant tumor progression. Mod Pathol 21:826-836.
6. Chompret A, Kannengiesser C, Barrois M, Terrier P, Dahan P, Tursz T, Lenoir GM, Bressac-De Paillerets B. 2004. PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology 126:318-321.
7. Corless CL, Heinrich MC. 2008. Molecular pathobiology of gastrointestinal stromal sarcomas. Annu Rev Pathol 3:557-586.
8. Corless CL, McGreevey L, Haley A, Town A, Heinrich MC. 2002. KIT mutations are common in incidental gastrointestinal stromal tumors one centimeter or less in size. Am J Pathol 160:1567-1572.
9. Daum O, Grossmann P, Vanecek T, Sima R, Mukensnabl P, Michal M. 2007. Diagnostic morphological features of PDGFRAmutated gastrointestinal stromal tumors: Molecular genetic and histologic analysis of 60 cases of gastric gastrointestinal stromal tumors. Ann Diagn Pathol 11:27-33.
10. de Raedt T, Cools J, Debiec-Rychter M, Brems H, Mentens N, Sciot R, Himpens J, de Wever I, Schoffski P, Marynen P, Legius E. 2006. Intestinal Neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. Gastroenterology 131:1907-1912.
11. El Rifai W, Sarlomo-Rikala M, Andersson LC, Knuutila S, Miettinen M. 2000. DNA sequence copy number changes in gastrointestinal stromal tumors: Tumor progression and prognostic significance. Cancer Res 60:3899-3903.
12. Fletcher CD, Berman JJ, Corless C, Gorstein F, Lasota J, Longley BJ, Miettinen M, O'Leary TJ, Remotti H, Rubin BP, Shmookler B, Sobin LH, Weiss SW. 2002. Diagnosis of gastrointestinal stromal tumors: A consensus approach. Hum Pathol 33:459-465.
13. Graham J, Debiec-Rychter M, Corless CL, Reid R, Davidson R, White JD. 2007. Imatinib in the management of multiple gastrointestinal stromal tumors associated with a germline KIT K642E mutation. Arch Pathol Lab Med 131:1393-1396.
14. Gunawan B, von Heydebreck A, Sander B, Schulten HJ, Haller F, Langer C, Armbrust T, Bollmann M, Gasparov S, Kovac D, Fuzesi L. 2007. An oncogenetic tree model in gastrointestinal stromal tumours (GISTs) identifies different pathways of cytogenetic evolution with prognostic implications. J Pathol 211: 463-470.
15. Haller F, Schulten HJ, Armbrust T, Langer C, Gunawan B, Fuzesi L. 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. Hartmann K, Wardelmann E, Ma Y, Merkelbach-Bruse S, Preussner LM, Woolery C, Baldus SE, Heinicke T, Thiele J, Buettner R, Longley BJ. 2005. Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis. Gastroenterology 129:1042-1046.
17. Heinrich MC, Rubin BP, Longley BJ, Fletcher JA. 2002. Biology and genetic aspects of gastrointestinal stromal tumors: KIT activation and cytogenetic alterations. Hum Pathol 33:484-495.
18. Hirota S, Okazaki T, Kitamura Y, O'Brien P, Kapusta L, Dardick I. 2000. Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene. Am J Surg Pathol 24:326-327.
19. Hirota S, Nishida T, Isozaki K, Taniguchi M, Nishikawa K, Ohashi A, Takabayashi A, Obayashi T, Okuno T, Kinoshita K, Chen H, Shinomura Y, Kitamura Y. 2002. Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene. Gastroenterology 122:1493-1499.
20. ISCN. 2005. An international system for human cytogenetic nomenclature. In: Tommerup N, Shaffer LG, editors. Basel, Switzerland: S. Karger.
21. Isozaki K, Terris B, Belghiti J, Schiffmann S, Hirota S, Vanderwinden JM. 2000. Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. Am J Pathol 157:1581-1585.
22. Kallioniemi OP, Kallioniemi A, Piper J, Isola J, Waldman FM, Gray JW, Pinkel D. 1994. Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chromosomes Cancer 10:231-243.
23. Kang DY, Park CK, Choi JS, Jin SY, Kim HJ, Joo M, Kang MS, Moon WS, Yun KJ, Yu ES, Kang H, Kim KM. 2007. Multiple gastrointestinal stromal tumors: Clinicopathologic and genetic analysis of 12 patients. Am J Surg Pathol 31:224-232.
24. Kim HJ, Lim SJ, Park K, Yuh YJ, Jang SJ, Choi J. 2005. Multiple gastrointestinal stromal tumors with a germline c-kit mutation. Pathol Int 55:655-659.
25. Kleinbaum EP, Lazar AJ, Tamborini E, Mcauliffe JC, Sylvestre PB, Sunnenberg TD, Strong L, Chen LL, Choi H, Benjamin RS, Zhang W, Trent JC. 2008. Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor. Int J Cancer 122:711-718.
26. Lasota J, Miettinen M. 2006. A new familial GIST identified. Am J Surg Pathol 30:1342.
27. Lasota J, Miettinen M. 2008. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histopathology 53:245-266.
28. FP, Fletcher JA, Heinrich MC, Garber JE, Sallan SE, Curiel-Lewandrowski C, Duensing A, van de RM, Schnipper LE, Demetri GD. 2005. Familial gastrointestinal stromal tumor syndrome: Phenotypic and molecular features in a kindred. J Clin Oncol 23:2735-2743.
29. Lungu O, Wright TC, Jr, Silverstein S. 1992. Typing of human papillomaviruses by polymerase chain reaction amplification with L1 consensus primers and RFLP analysis. Mol Cell Probes 6:145-152.
30. Maeyama H, Hidaka E, Ota H, Minami S, Kajiyama M, Kuraishi A, Mori H, Matsuda Y, Wada S, Sodeyama H, Nakata S, Kawamura N, Hata S, Watanabe M, Iijima Y, Katsuyama T. 2001. Familial gastrointestinal stromal tumor with hyperpigmentation: Association with a germline mutation of the c-kit gene. Gastroenterology 120:210-215.
31. Miettinen M, Lasota J. 2006. Gastrointestinal stromal tumors: Review on morphology, molecular pathology, prognosis, and differential diagnosis. Arch Pathol Lab Med 130:1466-1478.
32. Mullenbach R, Lagoda PJ, Welter C. 1989. An efficient salt-chloroform extraction of DNA from blood and tissues. Trends Genet 5:391.
33. Nakai N, Ishikawa T, Nishitani A, Liu NN, Shincho M, Hao H, Isozaki K, Kanda T, Nishida T, Fujimoto J, Hirota S. 2008. A mouse model of a human multiple GIST family with KITAsp820Tyr mutation generated by a knock-in strategy. J Pathol 214:302-311.
34. Nishida T, Hirota S, Taniguchi M, Hashimoto K, Isozaki K, Nakamura H, Kanakura Y, Tanaka T, Takabayashi A, Matsuda H, Kitamura Y. 1998. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet 19:323-324.
35. O'Riain C, Corless CL, Heinrich MC, Keegan D, Vioreanu M, Maguire D, Sheahan K. 2005. Gastrointestinal stromal tumors: Insights from a new familial GIST kindred with unusual genetic and pathologic features. Am J Surg Pathol 29:1680-1683.
36. Pasini B, Matyakhina L, Bei T, Muchow M, Boikos S, Ferrando B, Carney JA, Stratakis CA. 2007. Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: A case associated with a germline V561D defect. J Clin Endocrinol Metab 92:3728-3732.
37. Penzel R, Aulmann S, Moock M, Schwarzbach M, Rieker RJ, Mechtersheimer G. 2005. The location of KIT and PDGFRA gene mutations in gastrointestinal stromal tumours is site and phenotype associated. J Clin Pathol 58:634-639.
38. Robson ME, Glogowski E, Sommer G, Antonescu CR, Nafa K, Maki RG, Ellis N, Besmer P, Brennan M, Offit K. 2004. Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. Clin Cancer Res 10:1250-1254.
39. Rubin BP. 2006. Gastrointestinal stromal tumours: An update. Histopathology 48:83-96.
40. Rubin BP, Heinrich MC, Corless CL. 2007. Gastrointestinal stromal tumour. Lancet 369:1731-1741.
41. Sandberg AA, Bridge JA. 2002. Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors. Gastrointestinal stromal tumors. Cancer Genet Cytogenet 135:1-22.
42. Tarn C, Merkel E, Canutescu AA, Shen W, Skorobogatko Y, Heslin MJ, Eisenberg B, Birbe R, Patchefsky A, Dunbrack R, Arnoletti JP, von Mehren M, Godwin AK. 2005. Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: Therapeutic implications through protein modeling. Clin Cancer Res 11:3668-3677.
43. Teixeira MR, Ribeiro FR, Eknaes M, Waehre H, Stenwig AE, Giercksky KE, Heim S, Lothe RA. 2004. Genomic analysis of prostate carcinoma specimens obtained via ultrasound-guided needle biopsy may be of use in preoperative decision-making. Cancer 101:1786-1793.
44. Thalheimer A, Schlemmer M, Bueter M, Merkelbach-Bruse S, Schildhaus HU, Buettner R, Hartung E, Thiede A, Meyer D, Fein M, Maroske J, Wardelmann E. 2008. Familial gastrointestinal stromal tumors caused by the novel KIT exon 17 germline mutation N822Y. Am J Surg Pathol 32:1560-1565.
45. Wozniak A, Rutkowski P, Sciot R, Ruka W, Michej W, Debiec-Rychter M. 2008. Rectal gastrointestinal stromal tumors associated with a novel germline KIT mutation. Int J Cancer 122:2160-2164.