Leukemic transformation with t(8;21)(q22;q22.1); RUNX1::RUNX1T1 chromosomal translocation from JAK2-mutated myeloproliferative neoplasms
Yuichi Nakamura1
1Department of Hematology, Saitama Medical University Hospital, Moroyama, Saitama, Japan
Background: Leukemic transformation is a rare, but well-recognized event in Philadelphia (BCR::ABL1)-negative myeloproliferative neoplasms (MPNs) and is associated with a poor prognosis. Secondary acute myeloid leukemia (AML) arising from MPNs is characterized by a unique set of morphological, cytogenetic, and molecular features distinct from de novo disease. Balanced chromosomal translocations, such as t(8;21), inv(16)/t(16;16), and t(15;17), frequently observed in de novo AML with favorable-risk cytogenetics, are quite rare in post-MPN AML.
Objective: We and others have recently reported two cases of AML with t(8;21)(q22;q22.1);RUNX1::RUNX1T1 arising from JAK2V617F-mutated essential thrombocythemia and polycythemia vera. This mini-review summarizes the features and possible biological cooperation between t(8;21) and JAK2V617F in hematologic malignancies.
Conclusions: Both cases were thought to have evolved from JAK2-mutated MPN clones, indicating that t(8;21) can occur as a late event in MPN progression. The accumulation of such cases and further mechanistic investigations will be useful for understanding leukemic transformation in MPNs.
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