Detection of KIT and PDGFRA mutations in the plasma of patients with gastrointestinal stromal tumor

Targeted Oncology

Volumn 10, Issue 4, 2015, Pages 597-601

  Kang, Guhyun ^a   Bae, Byung Noe ^a   Sohn, Byeong Seok ^a   Pyo, Jung Soo ^b   Kang, Gu Hyum ^c   Kim, Kyoung Mee ^d  

^a Inje University College of Medicine   (South Korea)

^b School of Medicine   (South Korea)

^c Chungnam National University College of Medicine   (South Korea)

^d Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Circulating tumor DNA; Gastrointestinal stromal tumor; Next generation sequencing; Resistance mutation; Tyrosine kinase inhibitor

Indexed keywords

B RAF KINASE; CHLOROPLAST DNA; DNA; IMATINIB; SUNITINIB; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; STEM CELL FACTOR RECEPTOR;

ADULT; AGED; ARTICLE; BRAF GENE; CANCER PROGNOSIS; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DRUG DOSE REDUCTION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ENDOSCOPIC ECHOGRAPHY; EXON; FEMALE; FOLLOW UP; GASTROINTESTINAL STROMAL TUMOR; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; LOWER ABDOMINAL PAIN; MALE; MIDDLE AGED; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS TYPE 1; NEXT GENERATION SEQUENCING; ONCOGENE C KIT; PDGFRA GENE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SMALL INTESTINE RESECTION; TREATMENT RESPONSE; UNSPECIFIED SIDE EFFECT; VERY ELDERLY; WEDGE RESECTION; ENZYMOLOGY; GASTROINTESTINAL STROMAL TUMORS; GASTROINTESTINAL TUMOR; GENETICS; METABOLISM; MUTATION;

AGED, 80 AND OVER; FEMALE; GASTROINTESTINAL NEOPLASMS; GASTROINTESTINAL STROMAL TUMORS; HUMANS; MALE; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA;

EID: 84949091659     PISSN: 17762596     EISSN: 1776260X     Source Type: Journal    
DOI: 10.1007/s11523-015-0361-1     Document Type: Article

References (16)

1. Demetri GD, von Mehren M, Antonescu CR, DeMatteo RP, Ganjoo KN, Maki RG, Pisters PW, Raut CP, Riedel RF, Schuetze S, Sundar HM, Trent JC, Wayne JD (2010) NCCN task force report: update on the management of patients with gastrointestinal stromal tumors. J Natl Compr Cancer Netw 8(Suppl 2):S1–S41, quiz S42-44
2. Corless CL, Barnett CM, Heinrich MC (2011) Gastrointestinal stromal tumours: origin and molecular oncology. Nat Rev Cancer 11(12):865–878. doi:10.1038/nrc3143
3. Dematteo RP, Ballman KV, Antonescu CR, Maki RG, Pisters PW, Demetri GD, Blackstein ME, Blanke CD, von Mehren M, Brennan MF, Patel S, McCarter MD, Polikoff JA, Tan BR, Owzar K (2009) Adjuvant imatinib mesylate after resection of localised, primary gastrointestinal stromal tumour: a randomised, double-blind, placebo-controlled trial. Lancet 373(9669):1097–1104. doi:10.1016/S0140-6736(09)60500-6
4. Heinrich MC, Corless CL, Blanke CD, Demetri GD, Joensuu H, Roberts PJ, Eisenberg BL, von Mehren M, Fletcher CD, Sandau K, McDougall K, Ou WB, Chen CJ, Fletcher JA (2006) Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. J Clin Oncol 24(29):4764–4774
5. Maier J, Lange T, Kerle I, Specht K, Bruegel M, Wickenhauser C, Jost P, Niederwieser D, Peschel C, Duyster J, von Bubnoff N (2013) Detection of mutant free circulating tumor DNA in the plasma of patients with gastrointestinal stromal tumor harboring activating mutations of CKIT or PDGFRA. Clin Cancer Res 19(17):4854–4867. doi:10.1158/1078-0432.CCR-13-0765
6. Murtaza M, Dawson SJ, Tsui DW, Gale D, Forshew T, Piskorz AM, Parkinson C, Chin SF, Kingsbury Z, Wong AS, Marass F, Humphray S, Hadfield J, Bentley D, Chin TM, Brenton JD, Caldas C, Rosenfeld N (2013) Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 497(7447):108–112. doi:10.1038/nature12065
7. Chan KC, Jiang P, Zheng YW, Liao GJ, Sun H, Wong J, Siu SS, Chan WC, Chan SL, Chan AT, Lai PB, Chiu RW, Lo YM (2013) Cancer genome scanning in plasma: detection of tumor-associated copy number aberrations, single-nucleotide variants, and tumoral heterogeneity by massively parallel sequencing. Clin Chem 59(1):211–224. doi:10.1373/clinchem.2012.196014
8. Lee B, Han G, Kwon MJ, Han J, Choi YL (2014) KRAS mutation detection in Non-small cell lung cancer using a peptide nucleic acid-mediated polymerase chain reaction clamping method and comparative validation with next-generation sequencing. Korean J Pathol 48(2):100–107. doi:10.4132/KoreanJPathol.2014.48.2.100
9. Kohlmann A, Klein HU, Weissmann S, Bresolin S, Chaplin T, Cuppens H, Haschke-Becher E, Garicochea B, Grossmann V, Hanczaruk B, Hebestreit K, Gabriel C, Iacobucci I, Jansen JH, te Kronnie G, van de Locht L, Martinelli G, McGowan K, Schweiger MR, Timmermann B, Vandenberghe P, Young BD, Dugas M, Haferlach T (2011) The Interlaboratory RObustness of Next-generation sequencing (IRON) study: a deep sequencing investigation of TET2, CBL and KRAS mutations by an international consortium involving 10 laboratories. Leukemia 25(12):1840–1848. doi:10.1038/leu.2011.155
10. Richardson AL, Iglehart JD (2012) BEAMing up personalized medicine: mutation detection in blood. Clin Cancer Res 18(12):3209–3211. doi:10.1158/1078-0432.CCR-12-0871
11. Yoo C, Ryu MH, Na YS, Ryoo BY, Park SR, Kang YK (2014) Analysis of serum protein biomarkers, circulating tumor DNA, and dovitinib activity in patients with tyrosine kinase inhibitor-refractory gastrointestinal stromal tumors. Ann Oncol
12. Crowley E, Di Nicolantonio F, Loupakis F, Bardelli A (2013) Liquid biopsy: monitoring cancer-genetics in the blood. Nat Rev Clin Oncol 10(8):472–484. doi:10.1038/nrclinonc.2013.110
13. 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 (2005) Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants. Gastroenterology 128(2):270–279
14. Lim KH, Huang MJ, Chen LT, Wang TE, Liu CL, Chang CS, Liu MC, Hsieh RK, Tzen CY (2008) Molecular analysis of secondary kinase mutations in imatinib-resistant gastrointestinal stromal tumors. Med Oncol 25(2):207–213. doi:10.1007/s12032-007-9014-2
15. Ilie M, Hofman V, Long E, Bordone O, Selva E, Washetine K, Marquette CH, Hofman P (2014) Current challenges for detection of circulating tumor cells and cell-free circulating nucleic acids, and their characterization in non-small cell lung carcinoma patients. What is the best blood substrate for personalized medicine? Ann Transl Med 2(11):107. doi:10.3978/j.issn.2305-5839.2014.08.11
16. Elshimali YI, Khaddour H, Sarkissyan M, Wu Y, Vadgama JV (2013) The clinical utilization of circulating cell free DNA (CCFDNA) in blood of cancer patients. Int J Mol Sci 14(9):18925–18958. doi:10.3390/ijms140918925