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Gastrointestinal stromal tumors with KIT exon 9 mutations: Update on genotype-phenotype correlation and validation of a high-resolution melting assay for mutational testing.

Künstlinger H, Huss S, Merkelbach-Bruse S, Binot E, Kleine MA, Loeser H, Mittler J, Hartmann W, Hohenberger P, Reichardt P, Büttner R, Wardelmann E, Schildhaus HU.

Am J Surg Pathol. 2013 Nov;37(11):1648-59. doi: 10.1097/PAS.0b013e3182986b88.


High-resolution melting analysis is a sensitive diagnostic tool to detect imatinib-resistant and imatinib-sensitive PDGFRA exon 18 mutations in gastrointestinal stromal tumors.

Künstlinger H, Binot E, Merkelbach-Bruse S, Huss S, Wardelmann E, Buettner R, Schildhaus HU.

Hum Pathol. 2014 Mar;45(3):573-82. doi: 10.1016/j.humpath.2013.10.025. Epub 2013 Nov 4.


[The importance of mutational status in prognosis and therapy of GIST].

Comandone A, Boglione A.

Recenti Prog Med. 2015 Jan;106(1):17-22. doi: 10.1701/1740.18950. Italian.


Tyrosine-kinase mutations in c-KIT and PDGFR-alpha genes of imatinib naïve adult patients with gastrointestinal stromal tumours (GISTs) of the stomach and small intestine: relation to tumour-biological risk-profile and long-term outcome.

Søreide K, Sandvik OM, Søreide JA, Gudlaugsson E, Mangseth K, Haugland HK.

Clin Transl Oncol. 2012 Aug;14(8):619-29. doi: 10.1007/s12094-012-0851-x. Epub 2012 Jul 18.


Practical role of mutation analysis for imatinib treatment in patients with advanced gastrointestinal stromal tumors: a meta-analysis.

Zhi X, Zhou X, Wang W, Xu Z.

PLoS One. 2013 Nov 4;8(11):e79275. doi: 10.1371/journal.pone.0079275. eCollection 2013.


Secondary mutations of c-KIT contribute to acquired resistance to imatinib and decrease efficacy of sunitinib in Chinese patients with gastrointestinal stromal tumors.

Gao J, Tian Y, Li J, Sun N, Yuan J, Shen L.

Med Oncol. 2013 Jun;30(2):522. doi: 10.1007/s12032-013-0522-y. Epub 2013 Mar 2.


Extracellular domain c-kit mutation with duplication of Ser501Ala502 found in gastrointestinal stromal tumors is more imatinib- and nilotinib-sensitive than that with duplication of Ala502Tyr503.

Liu NN, Ohkouchi M, Hashikura Y, Kajimoto N, Matsuda I, Isozaki K, Toh Y, Takahashi T, Nishida T, Hirota S.

Lab Invest. 2013 May;93(5):502-7. doi: 10.1038/labinvest.2013.43. Epub 2013 Mar 4.


Sunitinib as a second-line therapy for advanced GISTs after failure of imatinib: relationship between efficacy and tumor genotype in Korean patients.

Yoon DH, Ryu MH, Ryoo BY, Beck M, Choi DR, Cho Y, Lee JL, Chang HM, Kim TW, Kang YK.

Invest New Drugs. 2012 Apr;30(2):819-27. doi: 10.1007/s10637-010-9593-1. Epub 2010 Nov 23.


[Translational research and diagnosis in GIST].

Wardelmann E.

Pathologe. 2012 Nov;33 Suppl 2:273-7. doi: 10.1007/s00292-012-1682-9. Review. German.


Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor.

Heinrich MC, Corless CL, Demetri GD, Blanke CD, von Mehren M, Joensuu H, McGreevey LS, Chen CJ, Van den Abbeele AD, Druker BJ, Kiese B, Eisenberg B, Roberts PJ, Singer S, Fletcher CD, Silberman S, Dimitrijevic S, Fletcher JA.

J Clin Oncol. 2003 Dec 1;21(23):4342-9.


C-KIT mutations were closely associated with the response to Imatinib in Chinese advanced gastrointestinal stromal tumor patients.

Gao J, Dang Y, Sun N, Li J, Shen L.

Med Oncol. 2012 Dec;29(5):3039-45. doi: 10.1007/s12032-012-0308-7. Epub 2012 Jul 20.


A subset of gastrointestinal stromal tumors previously regarded as wild-type tumors carries somatic activating mutations in KIT exon 8 (p.D419del).

Huss S, Künstlinger H, Wardelmann E, Kleine MA, Binot E, Merkelbach-Bruse S, Rüdiger T, Mittler J, Hartmann W, Büttner R, Schildhaus HU.

Mod Pathol. 2013 Jul;26(7):1004-12. doi: 10.1038/modpathol.2013.47. Epub 2013 Apr 19.


Molecular analysis of secondary kinase mutations in imatinib-resistant gastrointestinal stromal tumors.

Lim KH, Huang MJ, Chen LT, Wang TE, Liu CL, Chang CS, Liu MC, Hsieh RK, Tzen CY.

Med Oncol. 2008;25(2):207-13. doi: 10.1007/s12032-007-9014-2. Epub 2007 Oct 6.


Dedifferentiation in gastrointestinal stromal tumor to an anaplastic KIT-negative phenotype: a diagnostic pitfall: morphologic and molecular characterization of 8 cases occurring either de novo or after imatinib therapy.

Antonescu CR, Romeo S, Zhang L, Nafa K, Hornick JL, Nielsen GP, Mino-Kenudson M, Huang HY, Mosquera JM, Dei Tos PA, Fletcher CD.

Am J Surg Pathol. 2013 Mar;37(3):385-92. doi: 10.1097/PAS.0b013e31826c1761.


Activating mutations in c-KIT and PDGFRalpha are exclusively found in gastrointestinal stromal tumors and not in other tumors overexpressing these imatinib mesylate target genes.

Burger H, den Bakker MA, Kros JM, van Tol H, de Bruin AM, Oosterhuis W, van den Ingh HF, van der Harst E, de Schipper HP, Wiemer EA, Nooter K.

Cancer Biol Ther. 2005 Nov;4(11):1270-4. Epub 2005 Nov 18.


Novel V600E BRAF mutations in imatinib-naive and imatinib-resistant gastrointestinal stromal tumors.

Agaram NP, Wong GC, Guo T, Maki RG, Singer S, Dematteo RP, Besmer P, Antonescu CR.

Genes Chromosomes Cancer. 2008 Oct;47(10):853-9. doi: 10.1002/gcc.20589.


Long-term outcome of molecular subgroups of GIST patients treated with standard-dose imatinib in the BFR14 trial of the French Sarcoma Group.

Patrikidou A, Domont J, Chabaud S, Ray-Coquard I, Coindre JM, Bui-Nguyen B, Adenis A, Rios M, Bertucci F, Duffaud F, Chevreau C, Cupissol D, Pérol D, Emile JF, Blay JY, Le Cesne A; French Sarcoma Group.

Eur J Cancer. 2016 Jan;52:173-80. doi: 10.1016/j.ejca.2015.10.069. Epub 2015 Dec 11.


KIT, PDGFRA, and BRAF mutational spectrum impacts on the natural history of imatinib-naive localized GIST: a population-based study.

Rossi S, Gasparotto D, Miceli R, Toffolatti L, Gallina G, Scaramel E, Marzotto A, Boscato E, Messerini L, Bearzi I, Mazzoleni G, Capella C, Arrigoni G, Sonzogni A, Sidoni A, Mariani L, Amore P, Gronchi A, Casali PG, Maestro R, Dei Tos AP.

Am J Surg Pathol. 2015 Jul;39(7):922-30. doi: 10.1097/PAS.0000000000000418.


Polyclonal evolution of multiple secondary KIT mutations in gastrointestinal stromal tumors under treatment with imatinib mesylate.

Wardelmann E, Merkelbach-Bruse S, Pauls K, Thomas N, Schildhaus HU, Heinicke T, Speidel N, Pietsch T, Buettner R, Pink D, Reichardt P, Hohenberger P.

Clin Cancer Res. 2006 Mar 15;12(6):1743-9.

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