{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:39:08Z","timestamp":1790872748830,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T00:00:00Z","timestamp":1701129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood & Cancer"],"published-print":{"date-parts":[[2024,2]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Pediatric core binding factor acute myeloid leukemia (CBF\u2010AML), although considered a favorable risk subtype, exhibits variable outcomes primarily driven by additional genetic abnormalities, such as\n KIT<\/jats:italic>\n mutations.\n <\/jats:p>\n <\/jats:sec>\n \n Procedure<\/jats:title>\n \n In this study, we examined the prognostic impact of\n KIT<\/jats:italic>\n mutations in 130 pediatric patients with CBF\u2010AML, treated uniformly at a single center over 4\u00a0years (2017\u20132021).\n KIT<\/jats:italic>\n mutations were detected via next\u2010generation sequencing using a myeloid panel comprising 52 genes for most patients.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Our findings revealed that\n KIT<\/jats:italic>\n mutations were present in 31% of CBF\u2010AML cases. Exon 17\n KIT<\/jats:italic>\n mutation was most commonly (72%) seen with notable occurrences at the D816 and N822 residue in 48% and 39% of cases, respectively. The 3\u2010year cumulative incidence of relapse (CIR) and overall survival (OS) for patients with exon 17\n KIT<\/jats:italic>\n mutation were 36% and 40%, respectively, and was significantly worse in comparison to other site\n KIT<\/jats:italic>\n mutations (3\u2010year CIR: 11%; OS: 64%) and without\n KIT<\/jats:italic>\n mutation (3\u2010year CIR: 13%; OS:71%). Notably, the prognostic impact of\n KIT<\/jats:italic>\n mutations was prominent in patients with\n RUNX1::RUNX1T1<\/jats:italic>\n , but not in those with\n CBFB::MYH11<\/jats:italic>\n fusion. Additionally, a high\n KIT<\/jats:italic>\n variant\u2010allele frequency (VAF) (>33%) predicted for a higher disease relapse; 3\u2010year CIR of 40% for VAF greater than 33% versus 7% for VAF less than 33%. When adjusted for site of\n KIT<\/jats:italic>\n mutation and end\u2010of\u2010induction measurable residual disease, VAF greater than 33% correlated with poor OS (hazard ratio [HR]: 4.4 [95% CI: 1.2\u201317.2],\n p<\/jats:italic>\n \u00a0=\u00a0.034).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Exon 17\n KIT<\/jats:italic>\n mutations serve as an important predictor of relapse in\n RUNX1::RUNX1T1<\/jats:italic>\n pediatric AML. In addition, a high\n KIT<\/jats:italic>\n VAF may predict poor outcomes in these patients. These results emphasize the need to incorporate\n KIT<\/jats:italic>\n mutational analysis into risk stratification for pediatric CBF\u2010AML.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/pbc.30791","type":"journal-article","created":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T10:59:28Z","timestamp":1701169168000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["KIT<\/i>\n exon 17 mutations are predictive of inferior outcome in pediatric acute myeloid leukemia with\n RUNX1::RUNX1T1<\/i>"],"prefix":"10.1002","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2587-9181","authenticated-orcid":false,"given":"Shyam","family":"Srinivasan","sequence":"first","affiliation":[{"name":"Department of Pediatric Oncology Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3637-2880","authenticated-orcid":false,"given":"Chetan","family":"Dhamne","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikhil","family":"Patkar","sequence":"additional","affiliation":[{"name":"Department of Hematopathology Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6505-7898","authenticated-orcid":false,"given":"Gaurav","family":"Chatterjee","sequence":"additional","affiliation":[{"name":"Department of Hematopathology Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5650-3115","authenticated-orcid":false,"given":"Nirmalya Roy","family":"Moulik","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akanksha","family":"Chichra","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aneeta","family":"Pallath","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9030-0415","authenticated-orcid":false,"given":"Prashant","family":"Tembhare","sequence":"additional","affiliation":[{"name":"Department of Hematopathology Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2083-3176","authenticated-orcid":false,"given":"Dhanalaxmi","family":"Shetty","sequence":"additional","affiliation":[{"name":"Department of Cancer Cytogenetics Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. G.","family":"Subramanian","sequence":"additional","affiliation":[{"name":"Department of Hematopathology Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8539-295X","authenticated-orcid":false,"given":"Gaurav","family":"Narula","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shripad","family":"Banavali","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology Tata Memorial Centre Homi Bhabha National Institute Mumbai Maharashtra 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