{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T13:21:03Z","timestamp":1787750463257,"version":"build-2784847793"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Systemic mastocytosis (SM) with associated acute myeloid leukemia (AML) is a rare malignancy usually linked to KIT p.D816V mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Observation(s):<\/jats:title>\n                    <jats:p>\n                      We report a 17-year-old female with\n                      <jats:italic toggle=\"yes\">RUNX1::RUNX1T1<\/jats:italic>\n                      -positive AML and florid mast cell proliferation harboring a rare\n                      <jats:italic toggle=\"yes\">KIT<\/jats:italic>\n                      exon 8 deletion (p.Asp419del). Diagnosis required integration of morphology, immunophenotyping, and polymerase chain reaction, as routine NGS failed to detect the mutation. Despite remission following intensive chemotherapy and imatinib, the patient developed persistent mastocytosis and succumbed to septic shock.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      This first reported case of SM-AML with\n                      <jats:italic toggle=\"yes\">KIT<\/jats:italic>\n                      p.Asp419del highlights the need for comprehensive molecular testing and tailored therapy in atypical presentations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1097\/mph.0000000000003232","type":"journal-article","created":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T03:00:31Z","timestamp":1782442831000},"page":"283-286","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Unresponsive Systemic Mastocytosis in a Young AML With RUNX1::RUNX1T1 Fusion With Rare KIT c.1255_1257delGAC Mutation: A Clinical Deadlock"],"prefix":"10.1097","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7060-4166","authenticated-orcid":false,"given":"Vinu","family":"Balraam KV","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3566-7484","authenticated-orcid":false,"given":"Amiya R.","family":"Nayak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8282-7842","authenticated-orcid":false,"given":"Jasmita","family":"Dass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0127-851X","authenticated-orcid":false,"given":"Richa","family":"Chauhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4793-6829","authenticated-orcid":false,"given":"Ganesh K.","family":"Viswanathan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9885-1625","authenticated-orcid":false,"given":"Mukul","family":"Aggarwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7828-489X","authenticated-orcid":false,"given":"Pradeep","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8879-0331","authenticated-orcid":false,"given":"Rishi","family":"Dhawan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9760-7957","authenticated-orcid":false,"given":"Tulika","family":"Seth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-9223-0568","authenticated-orcid":false,"given":"Manoranjan","family":"Mahapatra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,6,26]]},"reference":[{"key":"R1-20260724","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1046\/j.1365-2141.2003.04362.x","article-title":"Incidence 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Report of an unusual case and review of the literature","volume":"57","author":"Bernd","year":"2004","journal-title":"J Clin Pathol"},{"key":"R10-20260724","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.hemonc.2016.08.005","article-title":"Prognostic importance of C-KIT mutations in core binding factor acute myeloid leukemia: a systematic review","volume":"10","author":"Ayatollahi","year":"2017","journal-title":"Hematol Oncol Stem Cell Ther"},{"key":"R11-20260724","doi-asserted-by":"crossref","first-page":"e363","DOI":"10.1016\/j.clml.2021.11.015","article-title":"The prognostic significance of c-KIT mutations in core binding factor acute myeloid leukemia","volume":"22","author":"Shafik","year":"2022","journal-title":"Clin Lymphoma Myeloma Leuk"},{"key":"R12-20260724","article-title":"Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN","journal-title":"Blood"},{"key":"R13-20260724","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1182\/blood-2008-03-147785","article-title":"Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation","volume":"112","author":"Hoffmann","year":"2008","journal-title":"Blood"},{"key":"R14-20260724","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1016\/j.leukres.2011.05.006","article-title":"Tyrosine kinase inhibitors in the treatment of systemic mastocytosis","volume":"35","author":"Ustun","year":"2011","journal-title":"Leuk Res"},{"key":"R15-20260724","first-page":"2916","article-title":"Systemic mastocytosis with associated acute myeloid leukemia (SM-AML): a poor-risk multi-mutated disease that follows a distinct diagnostic algorithm and requires high-dose stem cell-targeting therapy","volume":"130(S1)","author":"Jawhar","year":"2017","journal-title":"Blood"},{"key":"R16-20260724","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1002\/ajh.26962","article-title":"Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management","volume":"98","author":"Pardanani","year":"2023","journal-title":"Am J Hematol"}],"container-title":["Journal of Pediatric Hematology\/Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.1097\/MPH.0000000000003232","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T12:34:40Z","timestamp":1787747680000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.1097\/MPH.0000000000003232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,26]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.1097\/mph.0000000000003232","relation":{},"ISSN":["1077-4114","1536-3678"],"issn-type":[{"value":"1077-4114","type":"print"},{"value":"1536-3678","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,26]]},"assertion":[{"value":"2025-09-25","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-25","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}