Chronic myeloproliferative neoplasms with concomitant CALR mutation and BCR::ABL1 translocation: diagnostic and therapeutic implications of a rare hybrid disease

Myeloproliferative neoplasms (MPNs) are subdivided into Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML) and Ph-negative MPNs. translocation is essential for the development and diagnosis of CML; on the other hand, the majority of Ph-negative MPNs are characterized by generally m...

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Veröffentlicht in:Frontiers in cell and developmental biology 2024-03, Vol.12, p.1391078-1391078
Hauptverfasser: Zanelli, Magda, Fragliasso, Valentina, Loscocco, Giuseppe Gaetano, Sanguedolce, Francesca, Broggi, Giuseppe, Zizzo, Maurizio, Palicelli, Andrea, Ricci, Stefano, Ambrogi, Elisa, Martino, Giovanni, Aversa, Sara, Coppa, Francesca, Gentile, Pietro, Gozzi, Fabrizio, Caltabiano, Rosario, Koufopoulos, Nektarios, Asaturova, Aleksandra, Cimino, Luca, Cavazza, Alberto, Orcioni, Giulio Fraternali, Ascani, Stefano
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Sprache:eng
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Zusammenfassung:Myeloproliferative neoplasms (MPNs) are subdivided into Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML) and Ph-negative MPNs. translocation is essential for the development and diagnosis of CML; on the other hand, the majority of Ph-negative MPNs are characterized by generally mutually exclusive mutations of Janus kinase 2 ( ), calreticulin ( ), or thrombopoietin receptor/myeloproliferative leukemia ( ). mutations have been described essentially in and wild-type essential thrombocythemia and primary myelofibrosis. Rarely coexisting and mutations have been found in Ph-negative MPNs. translocation and mutations were initially considered mutually exclusive genomic events, but a discrete number of cases with the combination of these genetic alterations have been reported. The presence of translocation with a coexisting mutation is even more uncommon. Herein, starting from a routinely diagnosed case of -mutated primary myelofibrosis subsequently acquiring translocation, we performed a comprehensive review of the literature, discussing the clinicopathologic and molecular features, as well as the outcome and treatment of cases with and co-occurrence.
ISSN:2296-634X
2296-634X
DOI:10.3389/fcell.2024.1391078