| Autor: |
Magda Zanelli, Valentina Fragliasso, Giuseppe Gaetano Loscocco, Francesca Sanguedolce, Giuseppe Broggi, Maurizio Zizzo, Andrea Palicelli, Stefano Ricci, Elisa Ambrogi, Giovanni Martino, Sara Aversa, Francesca Coppa, Pietro Gentile, Fabrizio Gozzi, Rosario Caltabiano, Nektarios Koufopoulos, Aleksandra Asaturova, Luca Cimino, Alberto Cavazza, Giulio Fraternali Orcioni, Stefano Ascani |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Frontiers in Cell and Developmental Biology, Vol 12 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2296-634X |
| DOI: |
10.3389/fcell.2024.1391078 |
| Popis: |
Myeloproliferative neoplasms (MPNs) are subdivided into Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML) and Ph-negative MPNs. BCR::ABL1 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 (JAK2), calreticulin (CALR), or thrombopoietin receptor/myeloproliferative leukemia (MPL). CALR mutations have been described essentially in JAK2 and MPL wild-type essential thrombocythemia and primary myelofibrosis. Rarely coexisting CALR and MPL mutations have been found in Ph-negative MPNs. BCR::ABL1 translocation and JAK2 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 BCR::ABL1 translocation with a coexisting CALR mutation is even more uncommon. Herein, starting from a routinely diagnosed case of CALR-mutated primary myelofibrosis subsequently acquiring BCR::ABL1 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 BCR::ABL1 and CALR co-occurrence. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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