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Novel, activating KIT‐N822I mutation in familial cutaneous mastocytosis

Wasag, Bartosz, Niedoszytko, Marek, Piskorz, Anna, Lange, Magdalena, Renke, Joanna, Jassem, Ewa, Biernat, Wojciech, Debiec-Rychter, Maria, Limon, Janusz·2011·Experimental Hematology
DOI 10.1016/j.exphem.2011.05.009
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Research works printed but not linked: 22

  1. Garcia-Montero, 2006, KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients, Blood, 108, 2366, 10.1182/blood-2006-04-015545 · DOI
  2. Wilson, 2011, Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis, Haematologica, 96, 459, 10.3324/haematol.2010.031690 · DOI
  3. Beghini, 2001, Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa, Cancer, 92, 657, 10.1002/1097-0142(20010801)92:3<657::AID-CNCR1367>3.0.CO;2-D · DOI
  4. Hartmann, 2005, Novel germline mutation of KIT associated with familial gastrointestinal stromal tumors and mastocytosis, Gastroenterology, 129, 1042, 10.1053/j.gastro.2005.06.060 · DOI · Paper page
  5. Tang, 2004, A germline mutation in KIT in familial diffuse cutaneous mastocytosis, J Med Genet, 41, e88, 10.1136/jmg.2003.015156 · DOI · Paper page
  6. Zhang, 2006, A novel K509I mutation of KIT identified in familial mastocytosis—in vitro and in vivo responsiveness to imatinib therapy, Leuk Res, 30, 373, 10.1016/j.leukres.2005.08.015 · DOI · Paper page
  7. Lombardo, 2004, Discovery of N-(2-chloro-6-methyl-phenyl)-2-(6-(4-(2-hydroxyethyl)-piperazin-1-yl)-2-methylpyrimidin-4-ylamino)thiazole-5-carboxamide (BMS-354825), a dual Src/Abl kinase inhibitor with potent antitumor activity in preclinical assays, J Med Chem, 47, 6658, 10.1021/jm049486a · DOI
  8. Dewaele, 2008, Activity of dasatinib, a dual SRC/ABL kinase inhibitor, and IPI-504, a heat shock protein 90 inhibitor, against gastrointestinal stromal tumor-associated PDGFRAD842V mutation, Clin Cancer Res, 14, 5749, 10.1158/1078-0432.CCR-08-0533 · DOI
  9. Shah, 2006, Dasatinib (BMS-354825) inhibits KITD816V, an imatinib-resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosis, Blood, 108, 286, 10.1182/blood-2005-10-3969 · DOI
  10. Mital, 2011, A case of mast cell leukemia with exon 9 KIT mutation and good response to imatinib, Eur J Haematol, 86, 531, 10.1111/j.1600-0609.2011.01598.x · DOI
  11. Debiec-Rychter, 2005, Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants, Gastroenterology, 128, 270, 10.1053/j.gastro.2004.11.020 · DOI
  12. Kemmer, 2004, KIT mutations are common in testicular seminomas, Am J Pathol, 164, 305, 10.1016/S0002-9440(10)63120-3 · DOI
  13. Lux, 2000, KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors, Am J Pathol, 156, 791, 10.1016/S0002-9440(10)64946-2 · DOI
  14. Shimada, 2007, N822 mutation of KIT gene was frequent in pediatric acute myeloid leukemia patients with t(8;21) in Japan: a study of the Japanese childhood AML cooperative study group, Leukemia, 21, 2218, 10.1038/sj.leu.2404766 · DOI
  15. Thalheimer, 2008, Familial gastrointestinal stromal tumors caused by the novel KIT exon 17 germline mutation N822Y, Am J Surg Pathol, 32, 1560, 10.1097/PAS.0b013e318172ce6f · DOI
  16. McDonnell, 2011, V559A and N822I double KIT mutant melanoma with predictable response to imatinib?, Pigment Cell Melanoma Res, 24, 390, 10.1111/j.1755-148X.2010.00822.x · DOI
  17. Carballo, 2005, Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation, Am J Med Genet A, 132, 361, 10.1002/ajmg.a.30388 · DOI
  18. Yang, 2010, Pediatric mastocytosis-associated KIT extracellular domain mutations exhibit different functional and signaling properties compared with KIT-phosphotransferase domain mutations, Blood, 116, 1114, 10.1182/blood-2009-06-226027 · DOI
  19. Beghini, 2005, STI 571 inhibition effect on KITAsn822Lys-mediated signal transduction cascade, Exp Hematol, 33, 682, 10.1016/j.exphem.2005.03.007 · DOI
  20. Guo, 2007, Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper mutation in gastrointestinal stromal tumor, Clin Cancer Res, 13, 4874, 10.1158/1078-0432.CCR-07-0484 · DOI
  21. Verstovsek, 2008, Phase II study of dasatinib in Philadelphia chromosome-negative acute and chronic myeloid diseases, including systemic mastocytosis, Clin Cancer Res, 14, 3906, 10.1158/1078-0432.CCR-08-0366 · DOI
  22. Ustun, 2009, Chemotherapy and dasatinib induce long-term hematologic and molecular remission in systemic mastocytosis with acute myeloid leukemia with KIT D816V, Leuk Res, 33, 735, 10.1016/j.leukres.2008.09.027 · DOI

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Metadata

Authors
Wasag, B., Niedoszytko, M., Piskorz, A., Lange, M., Renke, J., Jassem, E., Biernat, W., Debiec-Rychter, M., & Limon, J.
Venue
Experimental Hematology
Publisher
Elsevier BV
Published
2011-08
Volume
39
Issue
8
Pages
859-865.e2
ISSN
0301-472X
DOI
10.1016/j.exphem.2011.05.009
Cited by
45
References
2
Language
en
Licence
Funders
  • Life Raft Group (M.D.-R.)
  • Fonds voor Wetenschappelijk Onderzoek Vlaanderen (G.0589.09, M.D.-R.)

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CoChat. (2026). Citation check: Novel, activating KIT‐N822I mutation in familial cutaneous mastocytosis. https://app.cochat.ai/papers/10.1016/j.exphem.2011.05.009
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Wasag, B., Niedoszytko, M., Piskorz, A., Lange, M., Renke, J., Jassem, E., Biernat, W., Debiec-Rychter, M., & Limon, J. (2011). Novel, activating KIT‐N822I mutation in familial cutaneous mastocytosis. Experimental Hematology. https://doi.org/10.1016/j.exphem.2011.05.009