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- Title
Myeloproliferative Neoplasm Driven by ETV6-ABL1 in an Adolescent with Recent History of Burkitt Leukemia.
- Authors
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
- Abstract
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.
- Subjects
MYELOPROLIFERATIVE neoplasms; HEMATOPOIETIC stem cells; LEUKEMIA; LYMPHOBLASTIC leukemia; ACUTE myeloid leukemia
- Publication
Current Oncology, 2023, Vol 30, Issue 7, p5946
- ISSN
1198-0052
- Publication type
Article
- DOI
10.3390/curroncol30070444