REFERENCES
1. Mei L, Du W, Idowu M, von Mehren M, Boikos SA. Advances and challenges on management of gastrointestinal stromal tumors. Front Oncol 2018;8:135.
2. Corless CL, Fletcher JA, Heinrich MC. Biology of gastrointestinal stromal tumors. J Clin Oncol 2004;22:3813-25.
3. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 1998;279:577-80.
4. Ravegnini G, Sammarini G, Angelini S, Hrelia P. Pharmacogenetics of tyrosine kinase inhibitors in gastrointestinal stromal tumor and chronic myeloid leukemia. Expert Opin Drug Metab Toxicol 2016;12:733-42.
5. Ricci R, Dei Tos AP, Rindi G. GISTogram: a graphic presentation of the growing GIST complexity. Virchows Arch 2013;463:481-7.
7. Nannini M, Urbini M, Astolfi A, Biasco G, Pantaleo MA. The progressive fragmentation of the KIT/PDGFRA wild-type (WT) gastrointestinal stromal tumors (GIST). J Transl Med 2017;15:113.
8. Mei L, Smith SC, Faber AC, Trent J, Grossman SR, et al. Gastrointestinal stromal tumors: the GIST of precision medicine. Trends Cancer 2018;4:74-91.
9. Boikos SA, Pappo AS, Killian JK, LaQuaglia MP, Weldon CB, et al. Molecular subtypes of KIT/PDGFRA wild-type gastrointestinal stromal tumors: a report from the national institutes of health gastrointestinal stromal tumor clinic. JAMA Oncol 2016;2:922-8.
10. Corless CL, Barnett CM, Heinrich MC. Gastrointestinal stromal tumours: origin and molecular oncology. Nat Rev Cancer 2011;11:865-78.
11. Indio V, Astolfi A, Tarantino G, Urbini M, Patterson J, et al. Integrated molecular characterization of gastrointestinal stromal tumors (GIST) harboring the rare D842V mutation in PDGFRA gene. Int J Mol Sci 2018;19:732.
12. Angelini S, Ravegnini G, Fletcher JA, Maffei F, Hrelia P. Clinical relevance of pharmacogenetics in gastrointestinal stromal tumor treatment in the era of personalized therapy. Pharmacogenomics 2013;14:941-56.
13. de Melo Maia B, Lavorato-Rocha AM, Rodrigues IS, Baiocchi G, Cestari FM, et al. Prognostic significance of c-KIT in vulvar cancer: bringing this molecular marker from bench to bedside. J Transl Med 2012;10:150.
14. Hirota S, Ohashi A, Nishida T, Isozaki K, Kinoshita K, et al. Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. Gastroenterology 2003;125:660-7.
15. Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003;299:708-10.
16. Huss S, Elges S, Trautmann M, Sperveslage J, Hartmann W, et al. Classification of KIT/PDGFRA wild-type gastrointestinal stromal tumors: implications for therapy. Expert Rev Anticancer Ther 2015;15:623-8.
17. Kumar R, Angelini S, Hemminki K. Activating BRAF and N-Ras mutations in sporadic primary melanomas: an inverse association with allelic loss on chromosome 9. Oncogene 2003;22:9217-24.
18. Scherer D, Rachakonda PS, Angelini S, Mehnert F, Sucker A, et al. Association between the germline MC1R variants and somatic BRAF/NRAS mutations in melanoma tumors. J Invest Dermatol 2010;130:2844-8.
19. Dankner M, Rose AAN, Rajkumar S, Siegel PM, Watson IR. Classifying BRAF alterations in cancer: new rational therapeutic strategies for actionable mutations. Oncogene 2018;37:3183-99.
20. Ravegnini G, Quero G, Sammarini G, Giustiniani MC, Castri F, et al. Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. Virchows Arch 2019;474:259-64.
21. Urbini M, Astolfi A, Indio V, Heinrich MC, Corless CL, et al. SDHC methylation in gastrointestinal stromal tumors (GIST): a case report. BMC Med Genet 2015;16:87.
22. Miettinen M, Lasota J. Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review. Int J Biochem Cell Biol 2014;53:514-9.
23. Pantaleo MA, Astolfi A, Urbini M, Nannini M, Paterini P, et al. Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST. Eur J Hum Genet 2014;22:32-9.
24. Casali PG, Abecassis N, Bauer S, Biagini R, Bielack S, et al. Gastrointestinal stromal tumours: ESMO-EURACAN clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 2018;29(Supplement_4):iv68-78.
25. Akahoshi K, Oya M, Koga T, Shiratsuchi Y. Current clinical management of gastrointestinal stromal tumor. World J Gastroenterol 2018;24:2806-17.
26. ESMO/European Sarcoma Network Working Group. Gastrointestinal stromal tumours: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 2014;25 Suppl 3:iii21-6.
27. Demetri GD, von Mehren M, Blanke CD, Van den Abbeele AD, Eisenberg B, et al. Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N Engl J Med 2002;347:472-80.
28. Maleddu A, Pantaleo MA, Nannini M, Di Battista M, Saponara M, et al. Mechanisms of secondary resistance to tyrosine kinase inhibitors in gastrointestinal stromal tumours (Review). Oncol Rep 2009;21:1359-66.
29. Demetri GD, van Oosterom AT, Garrett CR, Blackstein ME, Shah MH, et al. Efficacy and safety of sunitinib in patients with advanced gastrointestinal stromal tumour after failure of imatinib: a randomised controlled trial. Lancet 2006;368:1329-38.
30. George S, Wang Q, Heinrich MC, Corless CL, Zhu M, et al. Efficacy and safety of regorafenib in patients with metastatic and/or unresectable GI stromal tumor after failure of imatinib and sunitinib: A multicenter phase II trial. J Clin Oncol 2012;30:2401-7.
31. Papaetis GS, Syrigos KN. Sunitinib: a multitargeted receptor tyrosine kinase inhibitor in the era of molecular cancer therapies. BioDrugs 2009;23:377-89.
32. Vincenzi B, Nannini M, Grignani G, Fumagalli E, Gasperoni S, et al. Rechallenge in advanced GIST progressing to imatinib, sunitinib and regorafenib: an Italian survey. J Clin Oncol 2017;35:11038.
33. Housman G, Byler S, Heerboth S, Lapinska K, Longacre M, et al. Drug resistance in cancer: an overview. Cancers (Basel) 2014;6:1769-92.
34. Lee JH, Kim Y, Choi JW, Kim YS. Correlation of imatinib resistance with the mutational status of KIT and PDGFRA genes in gastrointestinal stromal tumors: a meta-analysis. J Gastrointestin Liver Dis 2013;22:413-8.
35. Künstlinger H, Huss S, Merkelbach-Bruse S, Binot E, Kleine MA, et al. Gastrointestinal stromal tumors with KIT exon 9 mutations: update on genotype-phenotype correlation and validation of a high-resolution melting assay for mutational testing. Am J Surg Pathol 2013;37:1648-59.
36. Debiec-Rychter M, Sciot R, Le Cesne A, Schlemmer M, Hohenberger P, et al. KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours. Eur J Cancer 2006;42:1093-103.
37. Heinrich MC, Owzar K, Corless CL, Hollis D, Borden EC, et al. Correlation of kinase genotype and clinical outcome in the North American intergroup phase III trial of imatinib mesylate for treatment of advanced gastrointestinal stromal tumor: CALGB 150105 study by cancer and leukemia group B and Southwest oncology group. J Clin Oncol 2008;26:5360-7.
38. Casali PG, Zalcberg J, Le Cesne A, Reichardt P, Blay JY, et al. Ten-year progression-free and overall survival in patients with unresectable or metastatic GI stromal tumors: long-term analysis of the European organisation for research and treatment of cancer, Italian sarcoma group, and Australasian gastrointestinal trials group intergroup phase III randomized trial on imatinib at two dose levels. J Clin Oncol 2017;35:1713-20.
39. Kikuchi H, Miyazaki S, Setoguchi T, Hiramatsu Y, Ohta M, et al. Rapid relapse after resection of a sunitinib-resistant gastrointestinal stromal tumor harboring a secondary mutation in exon 13 of the c-KIT gene. Anticancer Res 2012;32:4105-9.
40. Corless CL, Schroeder A, Griffith D, Town A, McGreevey L, et al. PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005;23:5357-64.
41. Blay JY, Heinrich MC, Hohenberger P, Casali PG, Rutkowski P, et al. A randomized, double-blind, placebo-controlled, phase III study of crenolanib in advanced or metastatic GIST patients bearing a D842V mutation in PDGFRA: the CrenoGIST study. J Clin Oncol 2017;35:TPS11080.
42. Klug LR, Kent JD, Heinrich MC. Structural and clinical consequences of activation loop mutations in class III receptor tyrosine kinases. Pharmacol Ther 2018;191:123-34.
43. Heinrich MC, Rankin C, Blanke CD, Demetri GD, Borden EC, et al. Correlation of long-term results of imatinib in advanced gastrointestinal stromal tumors with next-generation sequencing results. JAMA Oncol 2017;3:944-52.
44. Oppelt PJ, Hirbe AC, Van Tine BA. Gastrointestinal stromal tumors (GISTs): point mutations matter in management, a review. J Gastrointest Oncol 2017;8:466-73.
45. Gounder MM, Maki RG. Molecular basis for primary and secondary tyrosine kinase inhibitor resistance in gastrointestinal stromal tumor. Cancer Chemother Pharmacol 2011;67:25-43.
46. Aparicio-Gallego G, Blanco M, Figueroa A, García-Campelo R, Valladares-Ayerbes M, et al. New insights into molecular mechanisms of sunitinib-associated side effects. Mol Cancer Ther 2011;10:2215-23.
47. Heinrich MC, Maki RG, Corless CL, Antonescu CR, Harlow A, et al. Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor. J Clin Oncol 2008;26:5352-9.
48. Ben-Ami E, Barysauskas CM, von Mehren M, Heinrich MC, Corless CL, et al. Long-term follow-up results of the multicenter phase II trial of regorafenib in patients with metastatic and/or unresectable GI stromal tumor after failure of standard tyrosine kinase inhibitor therapy. Ann Oncol 2016;27:1794-9.
49. Miranda C, Nucifora M, Molinari F, Conca E, Anania MC, et al. KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors. Clin Cancer Res 2012;18:1769-76.
50. Franck C, Rosania R, Franke S, Haybaeck J, Canbay A, et al. The BRAF status may predict response to sorafenib in gastrointestinal stromal tumors resistant to imatinib, sunitinib, and regorafenib: case series and review of the literature. Digestion 2019;99:179-84.
51. Falchook GS, Trent JC, Heinrich MC, Beadling C, Patterson J, et al. BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance. Oncotarget 2013;4:310-5.
52. Mussi C, Schildhaus HU, Gronchi A, Wardelmann E, Hohenberger P. Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1. Clin Cancer Res 2008;14:4550-5.
53. Lee JL, Kim JY, Ryu MH, Kang HJ, Chang HM, et al. Response to imatinib in KIT- and PDGFRA-wild type gastrointestinal stromal associated with neurofibromatosis type 1. Dig Dis Sci 2006;51:1043-6.
54. Miettinen M, Fetsch JF, Sobin LH, Lasota J. Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases. Am J Surg Pathol 2006;30:90-6.
55. Caudle KE, Gammal RS, Whirl-Carrillo M, Hoffman JM, Relling MV, et al. Evidence and resources to implement pharmacogenetic knowledge for precision medicine. Am J Heal Pharm 2016;73:1977-85.
56. Ravegnini G, Nannini M, Sammarini G, Astolfi A, Biasco G, et al. Personalized medicine in gastrointestinal stromal tumor (GIST): clinical implications of the somatic and germline DNA analysis. Int J Mol Sci 2015;16:15592-608.
57. Eechoute K, Sparreboom A, Burger H, Franke RM, Schiavon G, et al. Drug transporters and imatinib treatment: implications for clinical practice. Clin Cancer Res 2011;17:406-15.
58. Verboom MC, Kloth JSL, Swen JJ, van der Straaten T, Bovée JVMG, et al. Genetic polymorphisms in angiogenesis-related genes are associated with worse progression-free survival of patients with advanced gastrointestinal stromal tumours treated with imatinib. Eur J Cancer 2017;86:226-32.
59. Zhang Q, Xu J, Qian Y, Chen L, Li Q, et al. Association of imatinib plasma concentration and single-nucleotide polymorphisms with adverse drug reactions in patients with gastrointestinal stromal tumors. Mol Cancer Ther 2018;17:2780-7.
60. Liu J, Chen Z, Chen H, Hou Y, Lu W, et al. Genetic polymorphisms contribute to the individual variations of imatinib mesylate plasma levels and adverse reactions in chinese GIST patients. Int J Mol Sci 2017;18:603.
61. Kloth JSL, Verboom MC, Swen JJ, van der Straaten T, Sleijfer S, et al. Genetic polymorphisms as predictive biomarker of survival in patients with gastrointestinal stromal tumors treated with sunitinib. Pharmacogenomics J 2018;18:49-55.
62. Saif MW, Smith MH, Maloney A, Diasio RB. Imatinib-induced hyperbilirubinemia with UGT1A1 (*28) promoter polymorphism: first case series in patients with gastrointestinal stromal tumor. Ann Gastroenterol 2016;29:551-6.
63. Yang J, Ikezoe T, Nishioka C, Takezaki Y, Hanazaki K, et al. Long-term exposure of gastrointestinal stromal tumor cells to sunitinib induces epigenetic silencing of the PTEN gene. Int J cancer 2012;130:959-66.
64. Jasek K, Kasubova I, Holubekova V, Stanclova A, Plank L, et al. Epigenetics: an alternative pathway in GISTs tumorigenesis. Neoplasma 2018;65:477-93.
65. Yun S, Kim WK, Kwon Y, Jang M, Bauer S, et al. Survivin is a novel transcription regulator of KIT and is downregulated by miRNA-494 in gastrointestinal stromal tumors. Int J cancer 2018;142:2080-93.
66. Zhang Z, Jiang NY, Guan RY, Zhu YK, Jiang FQ, et al. Identification of critical microRNAs in gastrointestinal stromal tumor patients treated with Imatinib. Neoplasma 2018;65:683-92.
67. Pantaleo MA, Ravegnini G, Astolfi A, Simeon V, Nannini M, et al. Integrating miRNA and gene expression profiling analysis revealed regulatory networks in gastrointestinal stromal tumors. Epigenomics 2016;8:1347-66.
68. Ravegnini G, Urbini M, Simeon V, Genovese C, Astolfi A, et al. An exploratory study by DMET array identifies a germline signature associated with imatinib response in gastrointestinal stromal tumor. Pharmacogenomics J 2018; doi: 10.1038/s41397-018-0050-4.
69. Angelini S, Ravegnini G, Nannini M, Bermejo JL, Musti M, et al. Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome. Eur J Hum Genet 2015;23:817-23.
70. Ravegnini G, Nannini M, Simeon V, Musti M, Sammarini G, et al. Polymorphisms in DNA repair genes in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome. Tumour Biol 2016;37:13413-23.
