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Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2 : A case report

Non‐Down‐syndrome‐related acute megakaryoblastic leukemia (non‐DS‐AMKL) 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‐month‐old female patient who pres...

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Autores principales: Gillam, Joseph, Catic, Aida, Paulraj, Prabakaran, Dalton, Justin, Lai, Guanhua, Jackson‐Cook, Colleen, Turner, Scott, Ferreira‐Gonzalez, Andrea, Barrie, Elizabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544894/
https://www.ncbi.nlm.nih.gov/pubmed/35294081
http://dx.doi.org/10.1002/gcc.23039
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author Gillam, Joseph
Catic, Aida
Paulraj, Prabakaran
Dalton, Justin
Lai, Guanhua
Jackson‐Cook, Colleen
Turner, Scott
Ferreira‐Gonzalez, Andrea
Barrie, Elizabeth
author_facet Gillam, Joseph
Catic, Aida
Paulraj, Prabakaran
Dalton, Justin
Lai, Guanhua
Jackson‐Cook, Colleen
Turner, Scott
Ferreira‐Gonzalez, Andrea
Barrie, Elizabeth
author_sort Gillam, Joseph
collection PubMed
description Non‐Down‐syndrome‐related acute megakaryoblastic leukemia (non‐DS‐AMKL) 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‐month‐old 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 CBFA2T3 (core‐binding factor, alpha subunit 2, translocated to, 3) on chromosome 16 and GLIS2 (GLIS family zinc finger protein 2), also on chromosome 16, was observed. Patients with AMKL who have trisomy 3 with CBFA2T3::GLIS2 fusions are rare, and it is not known if the co‐occurrence 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.
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spelling pubmed-95448942022-10-14 Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2 : A case report Gillam, Joseph Catic, Aida Paulraj, Prabakaran Dalton, Justin Lai, Guanhua Jackson‐Cook, Colleen Turner, Scott Ferreira‐Gonzalez, Andrea Barrie, Elizabeth Genes Chromosomes Cancer Brief Reports Non‐Down‐syndrome‐related acute megakaryoblastic leukemia (non‐DS‐AMKL) 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‐month‐old 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 CBFA2T3 (core‐binding factor, alpha subunit 2, translocated to, 3) on chromosome 16 and GLIS2 (GLIS family zinc finger protein 2), also on chromosome 16, was observed. Patients with AMKL who have trisomy 3 with CBFA2T3::GLIS2 fusions are rare, and it is not known if the co‐occurrence 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. John Wiley & Sons, Inc. 2022-03-30 2022-08 /pmc/articles/PMC9544894/ /pubmed/35294081 http://dx.doi.org/10.1002/gcc.23039 Text en © 2022 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Brief Reports
Gillam, Joseph
Catic, Aida
Paulraj, Prabakaran
Dalton, Justin
Lai, Guanhua
Jackson‐Cook, Colleen
Turner, Scott
Ferreira‐Gonzalez, Andrea
Barrie, Elizabeth
Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2 : A case report
title Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2 : A case report
title_full Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2 : A case report
title_fullStr Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2 : A case report
title_full_unstemmed Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2 : A case report
title_short Acute megakaryoblastic leukemia with trisomy 3 and CBFA2T3::GLIS2 : A case report
title_sort acute megakaryoblastic leukemia with trisomy 3 and cbfa2t3::glis2 : a case report
topic Brief Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544894/
https://www.ncbi.nlm.nih.gov/pubmed/35294081
http://dx.doi.org/10.1002/gcc.23039
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