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 variety of malignancies, including myeloproliferative neoplasms (MPN), acute lymphoblastic leukemia (ALL), and myeloid (AML). Here, we report the case 16-year-old male diagnosed with MPN, 7 months post-completion treatment for Burkitt leukaemia. RNA sequencing analysis confirmed presence an transcript, 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 tyrosine kinase inhibitor (TKI; imatinib) and, subsequently, underwent 10/10 matched unrelated haematopoietic stem cell transplant. He disease-free five years post-transplant. Definitive evidence prognostic influence haematological lacking; however, overall data suggest that it poor factor, particularly patients ALL AML. this should be more routinely investigated, especially CML-like picture. More routine use whole-genome analyses clinical diagnostic care, conjunction conventional cytogenetics, will facilitate these investigations.