{Reference Type}: Journal Article
{Title}: Chronic myeloproliferative neoplasms with concomitant CALR mutation and BCR::ABL1 translocation: diagnostic and therapeutic implications of a rare hybrid disease.
{Author}: Zanelli M;Fragliasso V;Loscocco GG;Sanguedolce F;Broggi G;Zizzo M;Palicelli A;Ricci S;Ambrogi E;Martino G;Aversa S;Coppa F;Gentile P;Gozzi F;Caltabiano R;Koufopoulos N;Asaturova A;Cimino L;Cavazza A;Orcioni GF;Ascani S;
{Journal}: Front Cell Dev Biol
{Volume}: 12
{Issue}: 0
{Year}: 2024
{Factor}: 6.081
{DOI}: 10.3389/fcell.2024.1391078
{Abstract}: 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.