%0 Journal Article
%T Chronic myeloproliferative neoplasms with concomitant CALR mutation and BCR::ABL1 translocation: diagnostic and therapeutic implications of a rare hybrid disease.
%A Zanelli M
%A Fragliasso V
%A Loscocco GG
%A Sanguedolce F
%A Broggi G
%A Zizzo M
%A Palicelli A
%A Ricci S
%A Ambrogi E
%A Martino G
%A Aversa S
%A Coppa F
%A Gentile P
%A Gozzi F
%A Caltabiano R
%A Koufopoulos N
%A Asaturova A
%A Cimino L
%A Cavazza A
%A Orcioni GF
%A Ascani S
%J Front Cell Dev Biol
%V 12
%N 0
%D 2024
%M 38596359
%F 6.081
%R 10.3389/fcell.2024.1391078
%X 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.