CALR mutation characterization in myeloproliferative neoplasms
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Cristina Bilbao-Sieyro1,2, Yanira Florido1 and María Teresa Gómez-Casares1
1 Hematology Department, Hospital Universitario de Gran Canaria Dr. Negrin, Las Palmas de Gran Canaria, Spain
2 Morfology Department, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain
María Teresa Gómez-Casares, email:
Cristina Bilbao-Sieyro, email:
Keywords: CALR, myeloproliferative neoplasms, type-1/2-like mutations
Received: March 23, 2016 Accepted: June 13, 2016 Published: July 01, 2016
Identification of somatic frameshift mutations in exon 9 of the calreticulin gene (CALR) in myeloproliferative neoplasms (MPNs) in December of 2013 has been a remarkable finding. It has provided a new molecular diagnostic marker, particularly in essential thrombocythemia (ET) and primary myelofibrosis (PMF), where is the second most common altered gene after JAK2V617F. There are two main types of CALR mutants, type 1 and type 2, and there is evidence about their distinct clinical/prognostic implications, for instances, it is believed that favorable outcome might be restricted to type-1 in PMF. By using reasoned approaches, very recent publications have supported classifying the alternative mutants in type-1-like or type-2-like. If further studies confirm these results, new considerations may be taken into account in the molecular diagnosis of MPNs. This implies that precise mutation characterization must be performed and caution should be taken in screening technique selection. In this Editorial we summarize the current information regarding all this issues.
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