A germline JAK2 exon12 mutation and a late somatic CALR mutation in a patient with essential thrombocythemia.

ABSTRACT:

Background

It has been discovered that Janus kinase 2 (JAK2) exon12 mutations lead to the polycythemia vera (PV) phenotype, while somatic mutations of calreticulin (CALR) are associated with essential thrombocythemia (ET) or primary myelofibrosis. In this article, we report a case of ET with coexistence of JAK2 exon12 and CALR mutations. The objective of this study was to elucidate the pathogenicity mechanism of a JAK2 exon12 mutation (JAK2N533S) and the role of the coexistence of mutations on the hematological phenotype.

Methods

We designed a colony analysis of tumor cells obtained from this patient, and attempted to identify mutant genes using DNA from hair follicles. Mutation impairment prediction and conservative analysis were co

SUBMITTER: Hao Z 

PROVIDER: S-EPMC10794477 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature