{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:31:07Z","timestamp":1760243467266,"version":"3.41.2"},"reference-count":6,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T00:00:00Z","timestamp":1631491200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100017683","name":"Frederick A. DeLuca Foundation","doi-asserted-by":"publisher","award":["PJ105026"],"award-info":[{"award-number":["PJ105026"]}],"id":[{"id":"10.13039\/100017683","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>Mast cell leukemia with associated hematologic neoplasm (MCL-AHN) is a rare and highly aggressive entity that remains understudied due to the paucity of cases. We present a case of a 45-year-old man who was concurrently diagnosed with mast cell leukemia and acute myeloid leukemia. We identified four additional patients who had MCL-AHN in our institution and performed whole-exome sequencing of all available tumors. Our series revealed a novel and identical <jats:italic>NR2F6<\/jats:italic> variant shared among two of the patients. This case series and sequencing results demonstrate the importance of fully characterizing rare tumors that are resistant to treatment.<\/jats:p>","DOI":"10.3389\/fonc.2021.730503","type":"journal-article","created":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T11:32:56Z","timestamp":1631532776000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Comprehensive Clinicopathologic and Molecular Analysis of Mast Cell Leukemia With Associated Hematologic Neoplasm: A Report and In-Depth Study of 5 Cases"],"prefix":"10.3389","volume":"11","author":[{"given":"Philippa","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"Biancon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timil","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zenggang","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shalin","family":"Kothari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Halene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Prebet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mina L.","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,9,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.163964","article-title":"The Clinical and Molecular Diversity of Mast Cell Leukemia With or Without Associated Hematologic Neoplasm","volume":"102","author":"Jawhar","year":"2017","journal-title":"Haematologica"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-07-442400","article-title":"Mast Cell Leukemia","volume":"121","author":"Georgin-Lavialle","year":"2013","journal-title":"Blood"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2015.284","article-title":"Additional Mutations in SRSF2, ASXL1 and\/or RUNX1 Identify a High-Risk Group of Patients With KIT D816V+ Advanced Systemic Mastocytosis","volume":"30","author":"Jawhar","year":"2016","journal-title":"Leukemia"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.08.035","article-title":"The Nuclear Orphan Receptor NR2F6 Is a Central Checkpoint for Cancer Immune Surveillance","volume":"12","author":"Hermann-Kleiter","year":"2015","journal-title":"Cell Rep"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1538","DOI":"10.1038\/s41467-018-04004-2","article-title":"Nuclear Receptor NR2F6 Inhibition Potentiates Responses to PD-L1\/PD-1 Cancer Immune Checkpoint Blockade","volume":"9","author":"Klepsch","year":"2018","journal-title":"Nat Commun"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.19463.1","article-title":"Recent Advances in the Understanding and Therapeutic Management of Mastocytosis","volume":"8","author":"Rossignol","year":"2019","journal-title":"F1000Res"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2021.730503\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T11:32:59Z","timestamp":1631532779000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2021.730503\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,13]]},"references-count":6,"alternative-id":["10.3389\/fonc.2021.730503"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2021.730503","relation":{},"ISSN":["2234-943X"],"issn-type":[{"type":"electronic","value":"2234-943X"}],"subject":[],"published":{"date-parts":[[2021,9,13]]},"article-number":"730503"}}