Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
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
_version_ 1785079826103664640
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
work_keys_str_mv AT renzisamuele myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT algawahmedfatimah myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT davidsonscott myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT langenbergkarinps myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT fulignifabio myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT alisalah myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT andersonnathaniel myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT brungaledia myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT bartramjack myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT abdelhaleemmohamed myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT naqviahmed myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT beimnetkassa myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT schuhandre myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT tierensanne myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT malkindavid myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT shlienadam myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT shagomary myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia
AT villanianita myeloproliferativeneoplasmdrivenbyetv6abl1inanadolescentwithrecenthistoryofburkittleukemia