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
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2022 |
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| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:44 |
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| Enthalten in: |
Journal of pediatric hematology/oncology - 44(2022), 3 vom: 01. Apr., Seite e719-e722 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
de Matos, Roberto R C [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 19.04.2022 Date Revised 02.03.2023 published: Print Citation Status MEDLINE |
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| doi: |
10.1097/MPH.0000000000002386 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM335019021 |
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| 100 | 1 | |a de Matos, Roberto R C |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a 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 |
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| 500 | |a Date Completed 19.04.2022 | ||
| 500 | |a Date Revised 02.03.2023 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved. | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a MLLT1 protein, human |2 NLM | |
| 650 | 7 | |a Neoplasm Proteins |2 NLM | |
| 650 | 7 | |a Nuclear Proteins |2 NLM | |
| 650 | 7 | |a SEC16A protein, human |2 NLM | |
| 650 | 7 | |a Transcription Factors |2 NLM | |
| 650 | 7 | |a Vesicular Transport Proteins |2 NLM | |
| 650 | 7 | |a Myeloid-Lymphoid Leukemia Protein |2 NLM | |
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| 700 | 1 | |a Ferreira, Gerson M |e verfasserin |4 aut | |
| 700 | 1 | |a Meyer, Claus |e verfasserin |4 aut | |
| 700 | 1 | |a Marschalek, Rolf |e verfasserin |4 aut | |
| 700 | 1 | |a Larghero, Patrizia |e verfasserin |4 aut | |
| 700 | 1 | |a Ribeiro, Raul C |e verfasserin |4 aut | |
| 700 | 1 | |a Liehr, Thomas |e verfasserin |4 aut | |
| 700 | 1 | |a Othman, Moneeb |e verfasserin |4 aut | |
| 700 | 1 | |a Bizarro, Mariana T de S M |e verfasserin |4 aut | |
| 700 | 1 | |a Sobral da Costa, Elaine |e verfasserin |4 aut | |
| 700 | 1 | |a Land, Marcelo G P |e verfasserin |4 aut | |
| 700 | 1 | |a Abdelhay, Eliana |e verfasserin |4 aut | |
| 700 | 1 | |a Binato, Renata |e verfasserin |4 aut | |
| 700 | 1 | |a Silva, Maria Luiza M |e verfasserin |4 aut | |
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