Chromosome copy number changes carry prognostic information independent of KIT/PDGFRA point mutations in gastrointestinal stromal tumors

BMC Medicine

Volumn 8, Issue , 2010, Pages

  Silva, Mara ^a   Veiga, Isabel ^a   Ribeiro, Franclim R ^a   Vieira, Joana ^a   Pinto, Carla ^a   Pinheiro, Manuela ^a   Mesquita, Bárbara ^a   Santos, Catarina ^a   Soares, Marta ^a   Dinis, José ^a   Santos, Lúcio ^a   Lopes, Paula ^a   Afonso, Mariana ^a   Lopes, Carlos ^a   Teixeira, Manuel R ^a,b  

^a PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

IMATINIB; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; STEM CELL FACTOR RECEPTOR; SUNITINIB;

ARTICLE; CANCER DIAGNOSIS; CANCER GROWTH; CANCER SURVIVAL; CHROMOSOMAL INSTABILITY; CHROMOSOME 12Q; CHROMOSOME 14Q; CHROMOSOME 15Q; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME LOSS; CLINICAL STUDY; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ACTIVITY; DISEASE FREE SURVIVAL; DRUG RESPONSE; GASTROINTESTINAL STROMAL TUMOR; GENETIC GAIN; GENETIC PREDISPOSITION; GENOTYPE; HIGH RISK POPULATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MUTATION RATE; NUMERICAL CHROMOSOME ABERRATION; POINT MUTATION; PROGNOSIS; SEQUENCE ANALYSIS; SOMATIC MUTATION; ADULT; AGED; ANEUPLOIDY; DNA SEQUENCE; FEMALE; GENETICS; HUMAN CHROMOSOME; MALE; METHODOLOGY; MIDDLE AGED; MOLECULAR PATHOLOGY; PATHOLOGY;

ADULT; AGED; ANEUPLOIDY; CHROMOSOMES, HUMAN; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GASTROINTESTINAL STROMAL TUMORS; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PATHOLOGY, MOLECULAR; POINT MUTATION; PROGNOSIS; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA; SEQUENCE ANALYSIS, DNA;

EID: 77952062243     PISSN: None     EISSN: 17417015     Source Type: Journal    
DOI: 10.1186/1741-7015-8-26     Document Type: Article

References (39)

1. Corless CL, Heinrich MC. Molecular pathobiology of gastrointestinal stromal sarcomas. Annu Rev Pathol 2008, 3:557-586. 10.1146/annurev.pathmechdis.3.121806.151538, 18039140.
2. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Muhammad TG, Matsuzawa Y, Kanakura Y, Shinomura Y, Kitamura Y. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998, 279:577-580. 10.1126/science.279.5350.577, 9438854.
3. Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Demetri GD, Fletcher CD, Fletcher JA. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003, 299:708-710. 10.1126/science.1079666, 12522257.
4. Taylor ML, Metcalfe DD. Kit signal transduction. Hematol Oncol Clin North Am 2000, 14:517-535. 10.1016/S0889-8588(05)70294-X, 10909038.
5. Savage DG, Antman KH. Imatinib mesylate - a new oral targeted therapy. N Engl J Med 2002, 346:683-693. 10.1056/NEJMra013339, 11870247.
6. Xiang Z, Kreisel F, Cain J, Colson A, Tomasson MH. Neoplasia driven by mutant c-KIT is mediated by intracellular, not plasma membrane, receptor signaling. Mol Cell Biol 2007, 27:267-282. 10.1128/MCB.01153-06, 1800644, 17060458.
7. El Rifai W, Sarlomo-Rikala M, Andersson LC, Knuutila S, Miettinen M. DNA sequence copy number changes in gastrointestinal stromal tumors: tumor progression and prognostic significance. Cancer Res 2000, 60:3899-3903.
8. Corless CL, Fletcher JA, Heinrich MC. Biology of gastrointestinal stromal tumors. J Clin Oncol 2004, 22:3813-3825. 10.1200/JCO.2004.05.140, 15365079.
9. Lasota J, Wozniak A, Kopczynski J, Dansonka-Mieszkowska A, Wasag B, Mitsuhashi T, Sarlomo-Rikala M, Lee JR, Schneider-Stock R, Stachura J, Limon J, Miettinen M. Loss of heterozygosity on chromosome 22q in gastrointestinal stromal tumors (GISTs): a study on 50 cases. Lab Invest 2005, 85:237-247. 10.1038/labinvest.3700218, 15580284.
10. Tornillo L, Terracciano LM. An update on molecular genetics of gastrointestinal stromal tumours. J Clin Pathol 2006, 59:557-563. 10.1136/jcp.2005.031112, 1860404, 16731599.
11. Heinrich MC, Rubin BP, Longley BJ, Fletcher JA. Biology and genetic aspects of gastrointestinal stromal tumors: KIT activation and cytogenetic alterations. Hum Pathol 2002, 33:484-495. 10.1053/hupa.2002.124124, 12094373.
12. Lungu O, Wright TC, Silverstein S. Typing of human papillomaviruses by polymerase chain reaction amplification with L1 consensus primers and RFLP analysis. Mol Cell Probes 1992, 6:145-152. 10.1016/0890-8508(92)90059-7, 1355266.
13. Mullenbach R, Lagoda PJ, Welter C. An efficient salt-chloroform extraction of DNA from blood and tissues. Trends Genet 1989, 5:391.
14. Penzel R, Aulmann S, Moock M, Schwarzbach M, Rieker RJ, Mechtersheimer G. The location of KIT and PDGFRA gene mutations in gastrointestinal stromal tumours is site and phenotype associated. J Clin Pathol 2005, 58:634-639. 10.1136/jcp.2004.021766, 1770686, 15917417.
15. Daum O, Grossmann P, Vanecek T, Sima R, Mukensnabl P, Michal M. Diagnostic morphological features of PDGFRA-mutated gastrointestinal stromal tumors: molecular genetic and histologic analysis of 60 cases of gastric gastrointestinal stromal tumors. Ann Diagn Pathol 2007, 11:27-33. 10.1016/j.anndiagpath.2006.10.002, 17240304.
16. Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, Pinkel D. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992, 258:818-821. 10.1126/science.1359641, 1359641.
17. Ribeiro FR, Jeronimo C, Henrique R, Fonseca D, Oliveira J, Lothe RA, Teixeira MR. 8q gain is an independent predictor of poor survival in diagnostic needle biopsies from prostate cancer suspects. Clin Cancer Res 2006, 12:3961-3970. 10.1158/1078-0432.CCR-05-1977, 16818693.
18. Kirchhoff M, Gerdes T, Rose H, Maahr J, Ottesen AM, Lundsteen C. Detection of chromosomal gains and losses in comparative genomic hybridization analysis based on standard reference intervals. Cytometry 1998, 31:163-173. 10.1002/(SICI)1097-0320(19980301)31:3<163::AID-CYTO3>3.0.CO;2-M, 9515715.
19. ISCN (2005): An International System for Human Cytogenetic Nomenclature. 2005, Basel: S. Karger, Tommerup N, Shaffer LG.
20. Demetri GD, Benjamin RS, Blanke CD, Blay JY, Casali P, Choi H, Corless CL, Debiec-Rychter M, Dematteo RP, Ettinger DS, Fisher GA, Fletcher CD, Gronchi A, Hohenberger P, Hughes M, Joensuu H, Judson I, Le Cesne A, Maki RG, Morse M, Pappo AS, Pisters PW, Raut CP, Reichardt P, Tyler DS, Abbeele AD, von Mehren M, Wayne JD, Zalcberg J. NCCN Task Force report: management of patients with gastrointestinal stromal tumor (GIST) - update of the NCCN clinical practice guidelines. J Natl Compr Canc Netw 2007, 5:S1-29.
21. Veiga I, Silva M, Veira J, Pinto C, Pinheiro M, Torres L, Soares M, Santos L, Coutinho C, Dinis J, Costa N, Guimaraes dos Santos J, Lopes P, Lopes C, Teixeira M. Hereditary gastrointestinal stromal tumors sharing the KIT exon 17 germline mutation p.Asp820Tyr develop through different cytogenetic progression pathways. Genes Chromosomes Cancer 2010, 49:91-98.
22. Joensuu H. Risk stratification of patients diagnosed with gastrointestinal stromal tumor. Hum Pathol 2008, 39:1411-1419. 10.1016/j.humpath.2008.06.025, 18774375.
23. 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. Diagnosis of gastrointestinal stromal tumors: A consensus approach. Hum Pathol 2002, 33:459-465. 10.1053/hupa.2002.123545, 12094370.
24. Yang J, Du X, Lazar AJ, Pollock R, Hunt K, Chen K, Hao X, Trent J, Zhang W. Genetic aberrations of gastrointestinal stromal tumors. Cancer 2008, 113:1532-1543. 10.1002/cncr.23778, 2651090, 18671247.
25. Rubin BP. Gastrointestinal stromal tumours: an update. Histopathology 2006, 48:83-96. 10.1111/j.1365-2559.2005.02291.x, 16359540.
26. Gomes AL, Gouveia A, Capelinha AF, de la CD, Silva P, Reis RM, Pimenta A, Lopes JM. Molecular alterations of KIT and PDGFRA in GISTs: evaluation of a Portuguese series. J Clin Pathol 2008, 61:203-208. 10.1136/jcp.2007.047043, 17827398.
27. Martin J, Poveda A, Llombart-Bosch A, Ramos R, Lopez-Guerrero JA, Garcia del Muro J, Maurel J, Calabuig S, Gutierrez A, Gonzalez de Sande JL, Martinez J, De Juan A, Lainez N, Losa F, Alija V, Escudero P, Casado A, Garcia P, Blanco R, Buesa JM. Deletions affecting codons 557-558 of the c-KIT gene indicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the Spanish Group for Sarcoma Research (GEIS). J Clin Oncol 2005, 23:6190-6198. 10.1200/JCO.2005.19.554, 16135486.
28. Lasota J, Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histopathology 2008, 53:245-266. 10.1111/j.1365-2559.2008.02977.x, 18312355.
29. Lux ML, Rubin BP, Biase TL, Chen CJ, Maclure T, Demetri G, Xiao S, Singer S, Fletcher CD, Fletcher JA. KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am J Pathol 2000, 156:791-795. 1876850, 10702394.
30. Wardelmann E, Losen I, Hans V, Neidt I, Speidel N, Bierhoff E, Heinicke T, Pietsch T, Buttner R, Merkelbach-Bruse S. Deletion of Trp-557 and Lys-558 in the juxtamembrane domain of the c-kit protooncogene is associated with metastatic behavior of gastrointestinal stromal tumors. Int J Cancer 2003, 106:887-895. 10.1002/ijc.11323, 12918066.
31. Cho S, Kitadai Y, Yoshida S, Tanaka S, Yoshihara M, Yoshida K, Chayama K. Deletion of the KIT gene is associated with liver metastasis and poor prognosis in patients with gastrointestinal stromal tumor in the stomach. Int J Oncol 2006, 28:1361-1367.
32. Debiec-Rychter M, Cools J, Dumez H, Sciot R, Stul M, Mentens N, Vranckx H, Wasag B, Prenen H, Roesel J, Hagemeijer A, Van Oosterom A, Marynen P. Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants. Gastroenterology 2005, 128:270-279. 10.1053/j.gastro.2004.11.020, 15685537.
33. Wardelmann E, Hrychyk A, Merkelbach-Bruse S, Pauls K, Goldstein J, Hohenberger P, Losen I, Manegold C, Buttner 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. 1867629, 15269295.
34. Rubin BP, Heinrich MC, Corless CL. Gastrointestinal stromal tumour. Lancet 2007, 369:1731-1741. 10.1016/S0140-6736(07)60780-6, 17512858.
35. Sandberg AA, Bridge JA. Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors. gastrointestinal stromal tumors. Cancer Genet Cytogenet 2002, 135:1-22. 10.1016/S0165-4608(02)00546-0, 12072198.
36. Gunawan B, von Heydebreck A, Sander B, Schulten HJ, Haller F, Langer C, Armbrust T, Bollmann M, Gasparov S, Kovac D, Fuzesi L. An oncogenetic tree model in gastrointestinal stromal tumours (GISTs) identifies different pathways of cytogenetic evolution with prognostic implications. J Pathol 2007, 211:463-470. 10.1002/path.2128, 17226762.
37. Andersson J, Sjogren H, Meis-Kindblom JM, Stenman G, Aman P, Kindblom LG. The complexity of KIT gene mutations and chromosome rearrangements and their clinical correlation in gastrointestinal stromal (pacemaker cell) tumors. Am J Pathol 2002, 160:15-22. 1867112, 11786393.
38. Assamaki R, Sarlomo-Rikala M, Lopez-Guerrero JA, Lasota J, Andersson LC, Llombart-Bosch A, Miettinen M, Knuutila S. Array comparative genomic hybridization analysis of chromosomal imbalances and their target genes in gastrointestinal stromal tumors. Genes Chromosomes Cancer 2007, 46:564-576. 10.1002/gcc.20439, 17330260.
39. Wozniak A, Sciot R, Guillou L, Pauwels P, Wasag B, Stul M, Vermeesch JR, Vandenberghe P, Limon J, Debiec-Rychter M. Array CGH analysis in primary gastrointestinal stromal tumors: cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status. Genes Chromosomes Cancer 2007, 46:261-276. 10.1002/gcc.20408, 17171690.