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2021, Number 2

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Rev Hematol Mex 2021; 22 (2)

Mutations in CALR gene and its role in the diagnosis and prognosis of chronic myeloproliferative neoplasms

Morales-Herrejón R, Pérez-Contreras VA, Cortés-Penagos C

Language: Spanish
References: 31
Page: 88-96
PDF size: 269.60 Kb.


ABSTRACT

Myeloproliferative neoplasms represent a broad group of genetic disorders characterized by the presence of JAK2 and MPL mutations. Discovery of somatic mutations in calreticulin gene (CALR) in essential thrombocythemia and primary myelofibrosis open up the possibility to include a new molecular marker to increase the diagnostic accuracy for these neoplasms. This paper describes the mutation profile of CALR and the relationship with the origin and prognosis impact of myeloproliferative neoplasms. All mutations in calreticulin gene (CALR) associated with myeloproliferative neoplasms occurs on exon 9. These mutations, classified as insertions and deletions, generate a new C-terminal amino acid sequence. Deletion of 52-bp (type 1 mutation) and insertion of 5-bp (type 2 mutation) are found in 80-90% of all reported cases. C-terminal modifications are suggested to drive the oncogenic pathway. The presence of mutations in calreticulin gene (CALR) have been related to clinical distinctive characteristics and good prognosis. CALR mutations appear early in myeloproliferative neoplasms and could potentially be used as transformation marker.


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