{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:26:55Z","timestamp":1790713615633,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T00:00:00Z","timestamp":1648598400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Non\u2010Down\u2010syndrome\u2010related acute megakaryoblastic leukemia (non\u2010DS\u2010AMKL) is a rare form of leukemia that can present with a variety of initial symptoms, including fever, rash, bruising, bleeding, or other more clinically challenging symptoms. Herein, we describe a 19\u2010month\u2010old female patient who presented with left lower extremity pain and language regression who was diagnosed with AMKL, not otherwise specified (NOS), on the basis of peripheral blood and bone marrow analysis, as well as cytogenetic and molecular diagnostic phenotyping. Of note, in addition to this patient's karyotype showing trisomy 3, a fusion between <jats:italic>CBFA2T3<\/jats:italic> (core\u2010binding factor, alpha subunit 2, translocated to, 3) on chromosome 16 and <jats:italic>GLIS2<\/jats:italic> (GLIS family zinc finger protein 2), also on chromosome 16, was observed. Patients with AMKL who have trisomy 3 with <jats:italic>CBFA2T3::GLIS2<\/jats:italic> fusions are rare, and it is not known if the co\u2010occurrence of these abnormalities is coincidental or biologically related. This highlights the continued need for further expansion of genetic testing in individuals with rare disease to establish the groundwork for identifying additional commonalities that could potentially be used to identify therapeutic targets or improve prognostication.<\/jats:p>","DOI":"10.1002\/gcc.23039","type":"journal-article","created":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T15:39:07Z","timestamp":1647445147000},"page":"491-496","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Acute megakaryoblastic leukemia with trisomy 3 and <i><scp>CBFA2T3<\/scp>::<scp>GLIS2<\/scp><\/i>: A case report"],"prefix":"10.1002","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3613-1542","authenticated-orcid":false,"given":"Joseph","family":"Gillam","sequence":"first","affiliation":[{"name":"Department of Anatomic and Clinical Pathology Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Catic","sequence":"additional","affiliation":[{"name":"Departments of Cytogenetics and Molecular Diagnostics Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prabakaran","family":"Paulraj","sequence":"additional","affiliation":[{"name":"Departments of Cytogenetics and Molecular Diagnostics Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin","family":"Dalton","sequence":"additional","affiliation":[{"name":"Department of Hematopathology Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guanhua","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Hematopathology Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"Jackson\u2010Cook","sequence":"additional","affiliation":[{"name":"Departments of Cytogenetics and Molecular Diagnostics Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Turner","sequence":"additional","affiliation":[{"name":"Departments of Cytogenetics and Molecular Diagnostics Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Ferreira\u2010Gonzalez","sequence":"additional","affiliation":[{"name":"Departments of Cytogenetics and Molecular Diagnostics Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1146-5001","authenticated-orcid":false,"given":"Elizabeth","family":"Barrie","sequence":"additional","affiliation":[{"name":"Departments of Cytogenetics and Molecular Diagnostics Virginia Commonwealth University  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,30]]},"reference":[{"issue":"5","key":"e_1_2_6_2_1","first-page":"1393","article-title":"Incidence and prognostic importance of molecular genetic defects in children with acute myeloblastic leukemia","volume":"11","author":"K\u00f6m\u00fcr M","year":"2010","journal-title":"Asian Pac J Cancer Prev"},{"issue":"3","key":"e_1_2_6_3_1","first-page":"254","article-title":"Value of multifaced approach diagnosis and classification of acute leukemias","volume":"7","author":"Angelescu S","year":"2012","journal-title":"Maedica 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