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KMT2A-MLLT1 and the Novel SEC16A-KMT2A in a Cryptic 3-Way Translocation t(9;11;19) Present in an Infant With Acute Lymphoblastic Leukemia.
de Matos, Roberto R C; Ferreira, Gerson M; Meyer, Claus; Marschalek, Rolf; Larghero, Patrizia; Ribeiro, Raul C; Liehr, Thomas; Othman, Moneeb; Bizarro, Mariana T de S M; Sobral da Costa, Elaine; Land, Marcelo G P; Abdelhay, Eliana; Binato, Renata; Silva, Maria Luiza M.
Afiliação
  • de Matos RRC; Cytogenetics Department, Bone Marrow Transplantation Unit, Instituto Nacional de Câncer José de Alencar Gomes da Silva (INCA).
  • Ferreira GM; Post-Graduation Program in Oncology, National Cancer Institute (INCA).
  • Meyer C; Post-Graduation Program in Oncology, National Cancer Institute (INCA).
  • Marschalek R; Stem Cell Department, Bone Marrow Transplantation Unit, Instituto Nacional de Câncer José de Alencar Gomes da Silva (INCA).
  • Larghero P; Institute of Pharmaceutical Biology, Diagnostic Center of Acute Leukemia, Goethe University Frankfurt, Frankfurt/Main.
  • Ribeiro RC; Institute of Pharmaceutical Biology, Diagnostic Center of Acute Leukemia, Goethe University Frankfurt, Frankfurt/Main.
  • Liehr T; Institute of Pharmaceutical Biology, Diagnostic Center of Acute Leukemia, Goethe University Frankfurt, Frankfurt/Main.
  • Othman M; Departments of Oncology and Global Pediatric Medicine, St. Jude Children's Research Hospital, Memphis, TN.
  • Bizarro MTSM; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
  • Sobral da Costa E; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
  • Land MGP; Cytogenetics Department, Bone Marrow Transplantation Unit, Instituto Nacional de Câncer José de Alencar Gomes da Silva (INCA).
  • Abdelhay E; Clinical Medicine Post-Graduation Program, Faculty of Medicine.
  • Binato R; Pediatrics Institute IPPMG, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
  • Silva MLM; Clinical Medicine Post-Graduation Program, Faculty of Medicine.
J Pediatr Hematol Oncol ; 44(3): e719-e722, 2022 04 01.
Article em En | MEDLINE | ID: mdl-34966090
About 25% of the patients with the translocation t(11;19)(q23;p13.3)/KMT2A-MLLT1 present three-way or more complex fusions, associated with a worse prognosis, suggesting that a particular mechanism creates functional KMT2A fusions for this condition. In this work, we show a cryptic three-way translocation t(9;11;19). Interestingly, long-distance inverse polymerase chain reaction sequencing revealed a KMT2A-MLLT1 and the yet unreported out-of-frame SEC16A-KMT2A fusion, associated with low SEC16A expression and KMT2A overexpression, in an infant with B-acute lymphoblastic leukemia presenting a poor prognosis. Our case illustrates the importance of molecular cytogenetic tests in selecting cases for further investigations, which could open perspectives regarding novel therapeutic approaches for poor prognosis childhood leukemias.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retículo Endoplasmático / Leucemia-Linfoma Linfoblástico de Células Precursoras Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retículo Endoplasmático / Leucemia-Linfoma Linfoblástico de Células Precursoras Idioma: En Ano de publicação: 2022 Tipo de documento: Article