Are two better than one? A novel double-mutant KIT in GIST that responds to Imatinib

Molecular Oncology

Volumn 7, Issue 4, 2013, Pages 756-762

  Conca, Elena ^a   Miranda, Claudia ^a   Col, Valentina Dal ^b   Fumagalli, Elena ^a   Pelosi, Giuseppe ^a   Mazzoni, Mara ^a   Fermeglia, Maurizio ^b   Laurini, Erik ^b   Pierotti, Marco A ^a   Pilotti, Silvana ^a   Greco, Angela ^a   Pricl, Sabrina ^b   Tamborini, Elena ^a  

^a NATIONAL CANCER INSTITUTE   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

Author keywords

Free energy of binding; Functional analysis; GIST; Imatinib; KIT mutations; Molecular modeling

Indexed keywords

IMATINIB; KIT PROTEIN; TUMOR PROTEIN; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; AGED; ARTICLE; CANCER SURGERY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; EMERGENCY SURGERY; FOLLOW UP; GASTROINTESTINAL RADIOGRAPHY; GASTROINTESTINAL STROMAL TUMOR; GENE MUTATION; HEART ATRIUM FIBRILLATION; HEMANGIOPERICYTOMA; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HYPERTENSION; MALE; MOLECULAR MODEL; PERITONEUM METASTASIS; PRIMARY TUMOR; PRIORITY JOURNAL; TREATMENT RESPONSE; TUMOR DIAGNOSIS; TUMOR GROWTH; X RAY;

MAMMALIA;

FREE ENERGY OF BINDING; FUNCTIONAL ANALYSIS; GIST; IMATINIB; KIT MUTATIONS; MOLECULAR MODELING;

AGED; BENZAMIDES; COMPUTATIONAL BIOLOGY; DRUG RESISTANCE, NEOPLASM; GASTROINTESTINAL STROMAL TUMORS; HUMANS; MALE; MUTATION; PIPERAZINES; PROTO-ONCOGENE PROTEINS C-KIT; PYRIMIDINES;

EID: 84880715571     PISSN: 15747891     EISSN: 18780261     Source Type: Journal    
DOI: 10.1016/j.molonc.2013.02.019     Document Type: Article

References (24)

1. Antonescu C.R., Busam K.J., Francone T.D., Wong G.C., Guo T., Agaram N.P., Besmer P., Jungbluth A., Gimbel M., Chen C.T., Veach D., Clarkson B.D., Paty P.B., Weiser M.R. L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. Int. J. Cancer 2007, 121:257-264.
2. Blanke C.D., Demetri G.D., von Mehren M., Heinrich M.C., Eisenberg B., Fletcher J.A., Corless C.L., Fletcher C.D., Roberts P.J., Heinz D., Wehre E., Nikolova Z., Joensuu H. Long-term results from a randomized phase II trial of standard- versus higher-dose imatinib mesylate for patients with unresectable or metastatic gastrointestinal stromal tumors expressing KIT. J.Clin. Oncol. 2008, 26:620-625.
3. Case D.A., Darden T.A., Cheatham T.E., Simmerling C.L., Wang J., Duke R.E., Luo R., Walker R.C., Zhang W., Merz K.M., Roberts B., Wang B., Hayik S., Roitberg A., Seabra G., Kolossváry I., Wong K.F., Paesani F., Vanicek J., Wu X., Brozell S.R., Steinbrecher T., Gohlke H., Cai Q., Ye X., Wang J., Hsieh M.-J., Cui G., Roe D.R., Mathews D.H., Seetin M.G., Sagui C., Babin V., Luchko T., Gusarov S., Kovalenko A., Kollman P.A. AMBER 11 2010, University of California, San Francisco, CA, USA.
4. Chen L.L., Trent J.C., Wu E.F., Fuller G.N., Ramdas L., Zhang W., Raymond A.K., Prieto V.G., Oyedeji C.O., Hunt K.K., Pollock R.E., Feig B.W., Hayes K.J., Choi H., Macapinlac H.A., Hittelman W., Velasco M.A., Patel S., Burgess M.A., Benjamin R.S., Frazier M.L. A missense mutation in KIT kinase domain 1 correlates with imatinib resistance in gastrointestinal stromal tumors. Cancer Res. 2004, 64:5913-5919.
5. Conca E., Negri T., Gronchi A., Fumagalli E., Tamborini E., Pavan G.M., Fermeglia M., Pierotti M.A., Pricl S., Pilotti S. Activate and resist: L576P-KIT in GIST. Mol. Cancer Ther. 2009, 8:2491-2495.
6. Debiec-Rychter M., Sciot R., Le Cesne A., Schlemmer M., Hohenberger P., van Oosterom A.T., Blay J.Y., Leyvraz S., Stul M., Casali P.G., Zalcberg J., Verweij J., Van Glabbeke M., Hagemeijer A., Judson I., EORTC Soft Tissue and Bone Sarcoma Group, Italian Sarcoma Group, Australasian Gastrointestinal Trials Group KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumors. Eur. J. Cancer 2006, 42:1093-1103.
7. Dileo P., Pricl S., Tamborini E., Negri T., Stacchiotti S., Gronchi A., Posocco P., Laurini E., Coco P., Fumagalli E., Casali P.G., Pilotti S. Imatinib response in two GIST patients carrying two hitherto functionally uncharacterized PDGFRA mutations: an imaging, biochemical and molecular modeling study. Int. J. Cancer 2011, 128:983-990.
8. Fletcher C.D., Berman J.J., Corless C., Gorstein F., Lasota J., Longley B.J., Miettinen M., O'Leary T.J., Remotti H., Rubin B.P., Shmookler B., Sobin L.H., Weiss S.W. Diagnosis of gastrointestinal stromal tumors: a consensus approach. Hum. Pathol. 2002, 33:459-465.
9. Heinrich M.C., Corless C.L., Demetri G.D., Blanke C.D., von Mehren M., Joensuu H., McGreevey L.S., Chen C.J., van den Abbeele A.D., Druker B.J., Kiese B., Eisenberg B., Roberts P.J., Singer S., Fletcher C.D., Silberman S., Dimitrijevic S., Fletcher J.A. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J.Clin. Oncol. 2003, 21:4342-4349.
10. Heinrich M.C., Maki R.G., Corless C.L., Antonescu C.R., Harlow A., Griffith D., Town A., McKinley A., Ou W.-B., Fletcher J.A., Fletcher C.D., Huang X., Cohen D.P., Baum C.M., Demetri G.D. Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor. J.Clin. Oncol. 2008, 26:5352-5359.
11. Lasota J., Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutation in gastrointestinal stromal tumors. Histopathology 2008, 53:245-266.
12. Lopes L.F., Bacchi C.E. Imatinib treatment for gastrointestinal stromal tumor (GIST). J.Cell. Mol. Med. 2010, 14:42-50.
13. McAuliff J.C., Wang W.L., Pavan G.M., Pricl S., Yang D., Chen S.S., Lazar A.J., Pollock R.E., Trent J.C. Unlucky number 13. Differential effects of KIT exon 13 mutation in gastrointestinal stromal tumors. Mol. Oncol. 2008, 2:161-163.
14. Miranda C., Nucifora M., Molinari F., Conca E., Anania M.C., Bordoni A., Saletti P., Mazzucchelli L., Pilotti S., Pierotti M.A., Tamborini E., Greco A., Frattini M. KRAS and BRAF mutations predict primary resistance to imatinib in gastrointestinal stromal tumors. Clin. Cancer Res. 2012 Mar 15, 18(6):1769-1776. Epub 2012 Jan 26.
15. Negri T., Pavan G.M., Virdis E., Greco A., Fermeglia M., Sandri M., Pricl S., Pierotti M.A., Pilotti S., Tamborini E. T670X KIT mutations in gastrointestinal stromal tumors:making sense of missense. J.Natl. Cancer Inst. 2009, 101:194-204.
16. Pierotti M.A., Negri T., Tamborini E., Perrone F., Pricl S., Pilotti S. Targeted therapies: the rare cancer paradigm. Mol. Oncol. 2010, 4:19-37.
17. Pierotti M.A., Tamborini E., Negri T., Pricl S., Pilotti S. Targeted therapy in GIST: in silico modeling for prediction of resistance. Nat. Rev. Clin. Oncol. 2011, 8:161-170.
18. Rivera R.S., Nagatsuka H., Gunduz M., Cengiz B., Gunduz E., Siar C.H., Tsujigiwa H., Tamamura R., Han K.N., Nagai N. C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma. Virchows Arch. 2008, 452:27-32.
19. Rössle M., Hirshmann A., Diebold J. Mutational spectrum and therapy response of metastasized GIST in central Switzerland - a population-based study. Eur. J. Cancer 2011, 47:1305-1311.
20. Srinivasan J., Cheetham T.E., Cieplak P., Kollman P.A., Case D.A. Continuum solvent studies of the stability of DNA, RNA and phosphoramidate-DNA helices. J.Am. Chem. Soc. 1998, 120:9401-9409.
21. Tamborini E., Bonadiman L., Greco A., Albertini V., Negri T., Gronchi A., Bertulli R., Colecchia M., Casali P.G., Pierotti M.A., Pilotti S. A new mutation in the KIT ATP pocket causes acquired resistance to imatinib in a gastrointestinal stromal tumor patient. Gastroenterology 2004, 127:294-299.
22. Tamborini E., Pricl S., Negri T., Lagonigro M.S., Miselli F., Greco A., Gronchi A., Casali P.G., Ferrone M., Fermeglia M., Carbone A., Pierotti M.A., Pilotti S. Functional analyses and molecular modeling of two c-Kit mutations responsible for imatinib secondary resistance in GIST patients. Oncogene 2006, 25:6140-6146.
23. Wardelmann E., Merkelbach-Bruse S., Pauls K., Thomas N., Schildhaus H.U., Heinicke T., Speidel N., Pietsch T., Buettner R., Pink D., Reichardt P., Hohenberger P. Polyclonal evolution of multiple secondary KIT mutationsingastrointestinal stromal tumors under treatmentwith imatinib mesylate. Clin. Cancer Res. 2006, 12:1743-1749.
24. Woodman S.E., Trent J.C., Stemke-Hale K., Lazar A.J., Pricl S., Pavan G.M., Fermeglia M., Gopal Y.N., Yang D., Podoloff D.A., Ivan D., Kim K.B., Papadopoulos N., Hwu P., Mills G.B., Davies M.A. Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. Mol. Cancer Ther. 2009, 8:2079-2085.