Screening for calreticulin mutations in a cohort of patients suspected of having a myeloproliferative neoplasm
Loading...
Date
2016
Authors
De Kock, A.
Booysen, C.
Journal Title
Journal ISSN
Volume Title
Publisher
Health and Medical Publishing Group (HMPG)
Abstract
Background. The discovery of calreticulin (CALR) has shown it to be the second most frequent mutation after the Janus Kinase 2 (JAK2)
mutation in myeloproliferative neoplasms (MPNs). Its structure indicates various functions, of which two are to ensure calcium homeostasis
and proper folding of other target proteins. Over 36 types of CALR mutations have been identified, all causing a recurrent frameshift in the
C-terminal domain affecting CALR’s localisation and calcium-binding function.
Objective. To screen a cohort of 89 patients suspected of having an MPN for the CALR mutations.
Methods. Capillary and gel electrophoresis were used in conjunction as confirmatory tests to screen the cohort of patients.
Results. Of three samples containing a type 1 CALR mutation, two were heterozygous and one homozygous for a 52-base pair deletion in CALR.
Conclusions. Most studies report CALR mutations to be present only in patients with primary myelofibrosis or essential thrombocythaemia,
with mutual exclusivity to JAK2 mutations. The findings of this study indicate that JAK2 and CALR mutations are no longer considered
mutually exclusive. Similarly, patients with a polycythaemia vera phenotype could also carry a CALR mutation.
Description
Keywords
Myeloproliferative neoplasm, Calreticulin, Mutations, Janus kinase 2, Homeostasis
Citation
De Kock, A., & Booysen, C. (2016). Screening for calreticulin mutations in a cohort of patients suspected of having a myeloproliferative neoplasm. South African Medical Journal, 106(12), 1260-1262.