View / Download PdfGiustino Varrassi1,2, Y Van Tran1,3, Pham Van Phong1,3, Giacomo Farì1,4, Martina Rekatsina5, Eleni Moka6 and Matteo Luigi Giuseppe Leoni1,7
1VIBRA Group, Fondazione Paolo Procacci, 00193 Rome, Italy
2College of Medicine, University of Baghdad, Baghdad, Iraq
3Department of Biomedical Engineering, International University, Vietnam National University, 700000 Ho Chi Minh City, Vietnam
4Department of Experimental Medicine (Di.Me.S.), University of Salento, Lecce, Italy.
5First Department of Anaesthesiology, Aretaieion Hospital, University of Athens School of Medicine, Vassilissis Sofias 76, 11528, Athens, Greece
6Faculty of Medicine, School of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece
7Department of Medical and Surgical Sciences and Translational Medicine, Sapienza University of Rome, Rome, Italy.
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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