Gastrointestinal Stromal Tumors, Somatic Mutations and Candidate Genetic Risk Variants

PLoS ONE

Volumn 8, Issue 4, 2013, Pages

  O'Brien, Katie M ^a   Orlow, Irene ^b   Antonescu, Cristina R ^b   Ballman, Karla ^c   McCall, Linda ^d   DeMatteo, Ronald ^b   Engel, Lawrence S ^a  

^a IL   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^c MAYO CLINIC   (United States)

^d American College of Surgeons Oncology Group   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; DIOXIN; GLUTATHIONE TRANSFERASE M1; IMATINIB; MUTAGENIC AGENT; PLACEBO; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

ADJUVANT THERAPY; ADULT; AGED; ARTICLE; CODON; CONTROLLED STUDY; CYP1B1 GENE; DNA REPAIR; ERCC GENE; EXON; FEMALE; GASTROINTESTINAL STROMAL TUMOR; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GSTM1 GENE; HUMAN; KIT GENE; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY (TOPIC); PDGFRA GENE; PHASE 3 CLINICAL TRIAL (TOPIC); PROTO ONCOGENE; RAD23B GENE; RANDOMIZED CONTROLLED TRIAL (TOPIC); RISK ASSESSMENT; RISK FACTOR; SEQUENCE KERNEL ASSOCIATION TEST; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; WILD TYPE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ARYL HYDROCARBON HYDROXYLASES; BENZAMIDES; FEMALE; GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; HUMANS; MALE; MIDDLE AGED; MUTATION; PIPERAZINES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-KIT; PYRIMIDINES; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA; RISK FACTORS;

EID: 84876330945     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0062119     Document Type: Article

References (77)

1. Miettinen M, Lasota J, (2001) Gastrointestinal stromal tumors--definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch. 438: 1-12.
2. Gastrointestinal Stromal Tumors Treatment (PDQ®)- National Cancer Institute. Available: http://www.cancer.gov/cancertopics/pdq/treatment/gist/HealthProfessional.Accessed 2012 Oct 24.
3. Tran T, Davila JA, El-Serag HB, (2005) The epidemiology of malignant gastrointestinal stromal tumors: an analysis of 1,458 cases from 1992 to 2000. Am J Gastroenterol. 100: 162-168.
4. Corless CL, Heinrich MC, (2008) Molecular pathobiology of gastrointestinal stromal sarcomas. Annu Rev Pathol. 3: 557-586.
5. Perez EA, Livingstone AS, Franceschi D, Rocha-Lima C, Lee DJ, et al. (2006) Current incidence and outcomes of gastrointestinal mesenchymal tumors including gastrointestinal stromal tumors. J Am Coll Surg. 202: 623-629.
6. Cheung MC, Zhuge Y, Yang R, Koniaris LG, (2009) Disappearance of racial disparities in gastrointestinal stromal tumor outcomes. J Am Coll Surg. 209: 7-16.
7. Miettinen M, Lasota J, (2006) Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis. Arch Pathol Lab Med. 130: 1466-1478.
8. Rubin BP, Heinrich MC, Corless CL, (2007) Gastrointestinal stromal tumour. Lancet. 369: 1731-1741.
9. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, et al. (1998) Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 279: 577-580.
10. Berman J, O'Leary TJ, (2001) Gastrointestinal stromal tumor workshop. Hum Pathol. 32: 578-582.
11. Corless CL, Schroeder A, Griffith D, Town A, McGreevey L, et al. (2005) PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol. 23: 5357-5364.
12. Mazzola P, Spitale A, Banfi S, Mazzucchelli L, Frattini M, et al. (2008) Epidemiology and molecular biology of gastrointestinal stromal tumors (GISTs): a population-based study in the South of Switzerland, 1999-2005. Histol Histopathol. 23: 1379-1386.
13. Steigen SE, Eide TJ, (2006) Trends in incidence and survival of mesenchymal neoplasm of the digestive tract within a defined population of northern Norway. APMIS. 114: 192-200.
14. Cassier PA, Ducimetière F, Lurkin A, Ranchère-Vince D, Scoazec J, et al. (2010) A prospective epidemiological study of new incident GISTs during two consecutive years in Rhône Alpes region: incidence and molecular distribution of GIST in a European region. Br J Cancer. 103: 165-170.
15. Antonescu CR, Sommer G, Sarran L, Tschernyavsky SJ, Riedel E, et al. (2003) Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. Clin Cancer Res. 9: 3329-3337.
16. Lasota J, Kuban W, Wardelmann E, Debiec-Rychter M, Merkelbach-Bruse S, et al. (2008) KIT codon 558 insertions in gastrointestinal stromal tumors. Analysis of 17 rare KIT mutants. Hum Pathol. 39: 1728-1736.
17. 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 follow-up. Am J Surg Pathol. 29: 52-68.
18. Cassier PA, Fumagalli E, Rutkowski P, Schoffski P, van Glabbeke M, et al. (2012) Outcome of patients with platelet-derived growth factor receptor alpha-mutated gastrointestinal stromal tumors in the tyrosine kinase inhibitor era. Clin Cancer Res. 18: 4458-4464.
19. Chen P, Zong L, Zhao W, Shi L, (2010) Efficacy evaluation of imatinib treatment in patients with gastrointestinal stromal tumors: a meta-analysis. World J Gastroenterol. 16: 4227-4232.
20. Gao J, Dang Y, Sun N, Li J, Shen L, (2012) C-KIT mutations were closely associated with the response to Imatinib in Chinese advanced gastrointestinal stromal tumor patients. Med Oncol. 29: 3039-3045.
21. Antonescu CR, Besmer P, Guo T, Arkun K, Hom G, et al. (2005) Acquired resistance to imatinib in gastrointestinal stromal tumor occurs through secondary gene mutation. Clin Cancer Res. 11: 4182-4190.
22. Chen LL, Trent JC, Wu EF, Fuller GN, Ramdas L, et al. (2004) A missense mutation in KIT kinase domain 1 correlates with imatinib resistance in gastrointestinal stromal tumors. Cancer Res. 64: 5913-5919.
23. Liegl B, Kepten I, Le C, Zhu M, Demetri GD, et al. (2008) Heterogeneity of kinase inhibitor resistance mechanisms in GIST. J Pathol. 216: 64-74.
24. Hirota S, Nishida T, Isozaki K, Taniguchi M, Nishikawa K, et al. (2002) Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene. Gastroenterology. 122: 1493-1499.
25. Thalheimer A, Schlemmer M, Bueter M, Merkelbach-Bruse S, Schildhaus H, et al. (2008) Familial gastrointestinal stromal tumors caused by the novel KIT exon 17 germline mutation N822Y. Am J Surg Pathol. 32: 1560-5.
26. Taubert H, Kappler M, Meye A, Bartel F, Schlott T, et al. (2000) A MboII polymorphism in exon 11 of the human MDM2 gene occuring in normal blood donors and in soft tissue sarcoma patients: an indication for an increased cancer susceptibility? Mutat Res. 456: 39-44.
27. Berwick M, Matullo G, Song YS, Guarrera S, Dominguez G, et al. (2004) Association between aryl hydrocarbon receptor genotype and survival in soft tissue sarcoma. J Clin Oncol. 22: 3997-4001.
28. Le Morvan V, Longy M, Bonaïti-Pellié C, Bui B, Houédé N, et al. (2006) Genetic polymorphisms of the XPG and XPD nucleotide excision repair genes in sarcoma patients. Int J Cancer. 119: 1732-1735.
29. Dematteo RP, Ballman KV, Antonescu CR, Maki RG, Pisters PWT, et al. (2009) Adjuvant imatinib mesylate after resection of localised, primary gastrointestinal stromal tumour: a randomised, double-blind, placebo-controlled trial. Lancet. 373: 1097-1104.
30. Ryk C, Berggren P, Kumar R, Hemminki K, Larsson P, et al. (2005) Influence of GSTM1, GSTT1, GSTP1 and NAT2 genotypes on the p53 mutational spectrum in bladder tumours. Int J Cancer. 113: 761-768.
31. Mechanic LE, Marrogi AJ, Welsh JA, Bowman ED, Khan MA, et al. (2005) Polymorphisms in XPD and TP53 and mutation in human lung cancer. Carcinogenesis. 26: 597-604.
32. Kogevinas M, Becher H, Benn T, Bertazzi PA, Boffetta P, et al. (1997) Cancer mortality in workers exposed to phenoxy herbicides, chlorophenols, and dioxins. An expanded and updated international cohort study. Am J Epidemiol. 145: 1061-1075.
33. Berwick M, Song Y, Jordan R, Brady MS, Orlow I, (2001) Mutagen sensitivity as an indicator of soft tissue sarcoma risk. Environ Mol Mutagen. 38: 223-226.
34. Boffetta P, Matisane L, Mundt KA, Dell LD, (2003) Meta-analysis of studies of occupational exposure to vinyl chloride in relation to cancer mortality. Scand J Work Environ Health. 29: 220-229.
35. Hardell L, (2008) Pesticides, soft-tissue sarcoma and non-Hodgkin lymphoma--historical aspects on the precautionary principle in cancer prevention. Acta Oncol. 47: 347-354.
36. Brady MS, Gaynor JJ, Brennan MF, (1992) Radiation-associated sarcoma of bone and soft tissue. Arch Surg. 127: 1379-1385.
37. Dixon K, Kopras E, (2004) Genetic alterations and DNA repair in human carcinogenesis. Semin Cancer Biol. 14: 441-448.
38. Olivier M, Hussain SP, Caron de Fromentel C, Hainaut P, Harris CC, (2004) TP53 mutation spectra and load: a tool for generating hypotheses on the etiology of cancer. IARC Sci Publ. 157: 247-270.
39. Gold LS, De Roos AJ, Brown EE, Lan Q, Milliken K, et al. (2009) Associations of common variants in genes involved in metabolism and response to exogenous chemicals with risk of multiple myeloma. Cancer Epidemiol. 33: 276-80.
40. Fujii-Kuriyama Y, (2010) Kawajiri (2010) Molecular mechanisms of the physiological functions of the aryl hydrocarbon (dioxin) receptor, a multifunctional regulator that senses and responds to environmental stimuli. Proc Jpn Acad Ser B Phys Biol Sci. 86: 40-53.
41. Lord-Dufour S, Copland IB, Levros L Jr, Post M, Das A, et al. (2009) Evidence for transcriptional regulation of the glucose-6-phosphate transporter by HIF-1alpha: Targeting G6PT with mumbaistatin analogs in hypoxic mesenchymal stromal cells. Stem Cells. 27: 489-497.
42. Yoshimura K, Hanaoka T, Ohnami S, Ohnami S, Kohno T, et al. (2003) Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples. J Hum Genet. 48: 654-658.
43. De Roos AJ, Gold LS, Wang S, Hartge P, Cerhan JR, et al. (2006) Metabolic gene variants and risk of non-Hodgkin's lymphoma. Cancer Epidemiol Biomarkers Prev. 15: 1647-1653.
44. Kiyohara C, (2000) Genetic polymorphism of enzymes involved in xenobiotic metabolism and the risk of colorectal cancer. J Epidemiol. 10: 349-360.
45. Zhang Z, Hao K, Shi R, Zhao G, Jiang G, et al. (2011) Glutathione S-transferase M1 (GSTM1) and glutathione S-transferase T1 (GSTT1) null polymorphisms, smoking, and their interaction in oral cancer: a HuGE review and meta-analysis. Am J Epidemiol. 173: 847-857.
46. Jalal S, Earley JN, Turchi JJ, (2011) DNA repair: from genome maintenance to biomarker and therapeutic target. Clin Cancer Res. 17: 6973-6984.
47. HapMap Homepage. Available: http://hapmap.ncbi.nlm.nih.gov/. Accessed 2012 Nov 24.
48. Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, et al. (2008) Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc Natl Acad Sci U S A. 105: 4340-4345.
49. Shen R, Fan J, Campbell D, Chang W, Chen J, et al. (2005) High-throughput SNP genotyping on universal bead arrays. Mutat Res. 573: 70-82.
50. Steinberg ML, Hubbard K, Utti C, Clas B, Hwang B, et al. (2009) Patterns of persistent DNA damage associated with sun exposure and the glutathione S-transferase M1 genotype in melanoma patients. Photochem Photobiol. 85: 379-386.
51. Dematteo RP, Gold JS, Saran L, Gönen M, Liau KH,et al. Tumor mitotic rate, size, and location independently predict recurrence after resection of primary gastrointestinal stromal tumor (GIST). Cancer. 112: 608-615.
52. Benjamini Y, Drai D, Elmer G, Kafkafi N, Golani I, (2001) Controlling the false discovery rate in behavior genetics research. Behav Brain Res. 125: 279-284.
53. Wu MC, Lee S, Cai T, Li Y, Boehnke M, et al. (2011) Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet. 89: 82-93.
54. Wu MC, Kraft P, Epstein MP, Taylor DM, Chanock SJ, et al. (2010) Powerful SNP-set analysis for case-control genome-wide association studies. Am J Hum Genet. 86: 929-942.
55. Zhang D, Lin X, (2003) Hypothesis testing in semiparametric additive mixed models. Biostatistics. 4: 57-74.
56. Xu W, Zhou Y, Hang X, Shen D, (2012) Current evidence on the relationship between CYP1B1 polymorphisms and lung cancer risk: a meta-analysis. Mol Biol Rep. 39: 2821-2829.
57. Chen B, Qiu L, Li Y, Xu W, Wang X, et al. (2010) The CYP1B1 Leu432Val polymorphism contributes to lung cancer risk: evidence from 6501 subjects. Lung Cancer. 70: 247-252.
58. Harth V, Schafer M, Abel J, Maintz L, Neuhaus T, et al. (2008) Head and neck squamous-cell cancer and its association with polymorphic enzymes of xenobiotic metabolism and repair. J Toxicol Environ Health A. 71: 887-897.
59. Singh AP, Shah PP, Mathur N, Buters JTM, Pant MC, (2008) Genetic polymorphisms in cytochrome P4501B1 and susceptibility to head and neck cancer. Mutat Res. 639: 11-19.
60. Vrana D, Novotny J, Holcatova I, Hlavata I, Soucek P, (2010) CYP1B1 gene polymorphism modifies pancreatic cancer risk but not survival. Neoplasma. 57: 15-19.
61. Ashton KA, Proietto A, Otton G, Symonds I, McEvoy M, et al. (2010) Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk. Cancer Epidemiol. 34: 328-337.
62. Reding KW, Chen C, Lowe K, Doody DR, Carlson CS, et al. (2012) Estrogen-related genes and their contribution to racial differences in breast cancer risk. Cancer Causes Control. 23: 671-681.
63. Xie Y, Liu G, Miao X, Liu Y, Zhou W, Zhong D, (2012) CYP1B1 Leu432Val polymorphism and colorectal cancer risk among Caucasians: a meta-analysis. Tumour Biol. 33: 809-816.
64. Cui L, Dillehay K, Chen W, Shen D, Dong Z, et al. (2012) Association of the CYP1B1 Leu432Val polymorphism with the risk of prostate cancer: a meta-analysis. Mol Biol Rep. 39: 7465-7471.
65. McGrath M, Hankinson SE, Arbeitman L, Colditz GA, Hunter DJ, et al. (2004) Cytochrome P450 1B1 and catechol-O-methyltransferase polymorphisms and endometrial cancer susceptibility. Carcinogenesis. 25: 559-565.
66. Mei Q, Zhou D, Han J, Lu H, Tang B, (2012) CYP1B1 Asn453Ser polymorphism and colorectal cancer risk: a meta-analysis. Metabolism. 61: 1321-1329.
67. Pan J, Lin J, Izzo JG, Liu Y, Xing J, et al. (2009) Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway. Carcinogenesis. 30: 785-792.
68. García-Closas M, Malats N, Real FX, Welch R, Kogevinas M, et al. (2006) Genetic variation in the nucleotide excision repair pathway and bladder cancer risk. Cancer Epidemiol Biomarkers Prev. 15: 536-542.
69. Fletcher O, Johnson N, Orr N, Hosking FJ, Gibson LJ, et al. (2011) Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst. 103: 425-435.
70. Manuguerra M, Saletta F, Karagas MR, Berwick M, Veglia F, et al. (2006) XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review. Am J Epidemiol. 164: 297-302.
71. Lu X, Yang W, Wan Z, Li J, Bi Z, (2011) Glutathione S-transferase polymorphisms and bone tumor risk in China. Asian Pac J Cancer Prev. 12: 3357-3360.
72. Salinas-Souza C, Petrilli AS, de Toledo SRC, (2010) Glutathione S-transferase polymorphisms in osteosarcoma patients. Pharmacogenet Genomics. 20: 507-515.
73. Berwick M, Matullo G, Song YS, Guarrera S, Dominguez G, et al. (2004) Association between aryl hydrocarbon receptor genotype and survival in soft tissue sarcoma. J Clin Oncol. 22: 3997-4001.
74. Economopoulos KP, Sergentanis TN, (2010) GSTM1, GSTT1, GSTP1, GSTA1 and colorectal cancer risk: a comprehensive meta-analysis. Eur J Cancer. 46: 1617-1631.
75. Wang D, Wang B, Zhai JX, Liu DW, Sun GG, (2011) Glutathione S-transferase M1 and T1 polymorphisms and cervical cancer risk: a meta-analysis. Neoplasma. 58: 352-359.
76. Engel LS, Taioli E, Pfeiffer R, Garcia-Closas M, Marcus PM, et al. (2002) Pooled analysis and meta-analysis of glutathione S-transferase M1 and bladder cancer: a HuGE review. Am J Epidemiol. 156: 95-109.
77. Wozniak A, Rutkowski P, Piskorz A, Ciwoniuk M, Osuch C, et al. (2012) Prognostic value of KIT/PDGFRA mutations in gastrointestinal stromal tumours (GIST): Polish Clinical GIST Registry experience. Ann Oncol. 23: 353-360.