{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T02:01:14Z","timestamp":1769479274789,"version":"3.49.0"},"reference-count":32,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T00:00:00Z","timestamp":1769385600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>Systemic mastocytosis (SM) is a rare hematological neoplasm characterized by the proliferation and accumulation of clonal mast cells (MCs) in the skin, bone marrow, and other extracutaneous organs. Mast cell leukemia (MCL) is the rarest and more aggressive subtype of SM, with very poor prognosis and abysmal survival. Treatment strategies are poorly defined and non-standardized, ranging from symptomatic management to KIT-targeted tyrosine kinase inhibitors and, in selected cases, allogeneic stem cell transplantation, currently the only potentially curative chance for MCL patients. Here, we report a case of a 66-year-old woman affected by MCL, highlighting clinical features, diagnostic challenges and complexity, and our treatment choices. Furthermore, we review current literature data and emerging therapeutic approaches, emphasizing the importance of greater clinical awareness and comprehensive multidisciplinary approach to correctly diagnose and treat this condition in order to improve patient outcomes in this challenging disease.<\/jats:p>","DOI":"10.3389\/fonc.2026.1746589","type":"journal-article","created":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T15:22:41Z","timestamp":1769440961000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: A case of mast cell leukemia treated with avapritinib: from diagnostic challenge to transplantation"],"prefix":"10.3389","volume":"16","author":[{"given":"Danilo Giuseppe","family":"Faraci","sequence":"first","affiliation":[{"name":"Medical Oncology, Hematopoietic Stem Cells Unit, Turin Metropolitan Transplant Center, Candiolo Cancer Institute, (FPO-IRCCS)","place":["Turin, Italy"]},{"name":"Department of Medical Oncology, Candiolo Cancer Institute, Fondazione del Piemonte per l'Oncologia - Istituto di Ricovero e Cura a Carattere Scientifico (FPO-IRCCS)","place":["Turin, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Caravelli","sequence":"additional","affiliation":[{"name":"Medical Oncology, Hematopoietic Stem Cells Unit, Turin Metropolitan Transplant Center, Candiolo Cancer Institute, (FPO-IRCCS)","place":["Turin, Italy"]},{"name":"Department of Medical Oncology, Candiolo Cancer Institute, Fondazione del Piemonte per l'Oncologia - Istituto di Ricovero e Cura a Carattere Scientifico (FPO-IRCCS)","place":["Turin, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabrizio Carnevale","family":"Schianca","sequence":"additional","affiliation":[{"name":"Medical Oncology, Hematopoietic Stem Cells Unit, Turin Metropolitan Transplant Center, Candiolo Cancer Institute, (FPO-IRCCS)","place":["Turin, Italy"]},{"name":"Department of Medical Oncology, Candiolo Cancer Institute, Fondazione del Piemonte per l'Oncologia - Istituto di Ricovero e Cura a Carattere Scientifico (FPO-IRCCS)","place":["Turin, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Zaniol","sequence":"additional","affiliation":[{"name":"Collection and Processing Laboratory, Candiolo Cancer Institute, (FPO-IRCCS)","place":["Turin, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiorenza","family":"Enrico","sequence":"additional","affiliation":[{"name":"Hospital Pharmacy, Candiolo Cancer Institute, Fondazione del Piemonte per l'Oncologia - Istituto di Ricovero e Cura a Carattere Scientifico (FPO-IRCCS)","place":["Turin, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Boffano","sequence":"additional","affiliation":[{"name":"Radiology Unit, Candiolo Cancer Institute, Fondazione del Piemonte per l'Oncologia - Istituto di Ricovero e Cura a Carattere Scientifico (FPO-IRCCS)","place":["Turin, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmelo","family":"Labate","sequence":"additional","affiliation":[{"name":"SC Neurologia, Ospedale Civile Edoardo Agnelli Di Pinerolo","place":["Pinerolo, Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greta","family":"Sterpi","sequence":"additional","affiliation":[{"name":"Pathology Unit, Candiolo Cancer Institute, Fondazione del Piemonte per l'Oncologia - 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