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Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia
ETV6-ABL1 gene fusion is a rare genetic rearrangement in a variety of malignancies, including myeloproliferative neoplasms (MPN), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML). Here, we report the case of a 16-year-old male diagnosed with a MPN, 7 months post-completion of tre...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378670/ https://www.ncbi.nlm.nih.gov/pubmed/37503586 http://dx.doi.org/10.3390/curroncol30070444 |
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author | Renzi, Samuele Algawahmed, Fatimah Davidson, Scott Langenberg, Karin P. S. Fuligni, Fabio Ali, Salah Anderson, Nathaniel Brunga, Ledia Bartram, Jack Abdelhaleem, Mohamed Naqvi, Ahmed Beimnet, Kassa Schuh, Andre Tierens, Anne Malkin, David Shlien, Adam Shago, Mary Villani, Anita |
author_facet | Renzi, Samuele Algawahmed, Fatimah Davidson, Scott Langenberg, Karin P. S. Fuligni, Fabio Ali, Salah Anderson, Nathaniel Brunga, Ledia Bartram, Jack Abdelhaleem, Mohamed Naqvi, Ahmed Beimnet, Kassa Schuh, Andre Tierens, Anne Malkin, David Shlien, Adam Shago, Mary Villani, Anita |
author_sort | Renzi, Samuele |
collection | PubMed |
description | ETV6-ABL1 gene fusion is a rare genetic rearrangement in a variety of malignancies, including myeloproliferative neoplasms (MPN), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML). Here, we report the case of a 16-year-old male diagnosed with a MPN, 7 months post-completion of treatment for Burkitt leukaemia. RNA sequencing analysis confirmed the presence of an ETV6-ABL1 fusion transcript, with an intact, in-frame ABL tyrosine–kinase domain. Of note, secondary ETV6-ABL1-rearranged neoplastic diseases have not been reported to date. The patient was started on a tyrosine kinase inhibitor (TKI; imatinib) and, subsequently, underwent a 10/10 matched unrelated haematopoietic stem cell transplant. He is disease-free five years post-transplant. Definitive evidence of the prognostic influence of the ETV6-ABL1 fusion in haematological neoplasms is lacking; however, overall data suggest that it is a poor prognostic factor, particularly in patients with ALL and AML. The presence of this ETV6-ABL1 fusion should be more routinely investigated, especially in patients with a CML-like picture. More routine use of whole-genome and RNA sequencing analyses in clinical diagnostic care, in conjunction with conventional cytogenetics, will facilitate these investigations. |
format | Online Article Text |
id | pubmed-10378670 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-103786702023-07-29 Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia Renzi, Samuele Algawahmed, Fatimah Davidson, Scott Langenberg, Karin P. S. Fuligni, Fabio Ali, Salah Anderson, Nathaniel Brunga, Ledia Bartram, Jack Abdelhaleem, Mohamed Naqvi, Ahmed Beimnet, Kassa Schuh, Andre Tierens, Anne Malkin, David Shlien, Adam Shago, Mary Villani, Anita Curr Oncol Case Report ETV6-ABL1 gene fusion is a rare genetic rearrangement in a variety of malignancies, including myeloproliferative neoplasms (MPN), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML). Here, we report the case of a 16-year-old male diagnosed with a MPN, 7 months post-completion of treatment for Burkitt leukaemia. RNA sequencing analysis confirmed the presence of an ETV6-ABL1 fusion transcript, with an intact, in-frame ABL tyrosine–kinase domain. Of note, secondary ETV6-ABL1-rearranged neoplastic diseases have not been reported to date. The patient was started on a tyrosine kinase inhibitor (TKI; imatinib) and, subsequently, underwent a 10/10 matched unrelated haematopoietic stem cell transplant. He is disease-free five years post-transplant. Definitive evidence of the prognostic influence of the ETV6-ABL1 fusion in haematological neoplasms is lacking; however, overall data suggest that it is a poor prognostic factor, particularly in patients with ALL and AML. The presence of this ETV6-ABL1 fusion should be more routinely investigated, especially in patients with a CML-like picture. More routine use of whole-genome and RNA sequencing analyses in clinical diagnostic care, in conjunction with conventional cytogenetics, will facilitate these investigations. MDPI 2023-06-21 /pmc/articles/PMC10378670/ /pubmed/37503586 http://dx.doi.org/10.3390/curroncol30070444 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Renzi, Samuele Algawahmed, Fatimah Davidson, Scott Langenberg, Karin P. S. Fuligni, Fabio Ali, Salah Anderson, Nathaniel Brunga, Ledia Bartram, Jack Abdelhaleem, Mohamed Naqvi, Ahmed Beimnet, Kassa Schuh, Andre Tierens, Anne Malkin, David Shlien, Adam Shago, Mary Villani, Anita Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia |
title | Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia |
title_full | Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia |
title_fullStr | Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia |
title_full_unstemmed | Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia |
title_short | Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia |
title_sort | myeloproliferative neoplasm driven by etv6-abl1 in an adolescent with recent history of burkitt leukemia |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378670/ https://www.ncbi.nlm.nih.gov/pubmed/37503586 http://dx.doi.org/10.3390/curroncol30070444 |
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