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CALR type 1 mutations are associated with an increased incidence of myelofibrosis in young male patients
Ist Teil von
Irish journal of medical science, 2023-04, Vol.192 (2), p.591-593
Ort / Verlag
Cham: Springer International Publishing
Erscheinungsjahr
2023
Quelle
MEDLINE
Beschreibungen/Notizen
Background
Calreticulin (
CALR
) mutations are commonly identified in patients with essential thrombocythaemia or myelofibrosis.
CALR
type 1 mutations are known to have a higher overall incidence in males but little is known about the risks of mutation subtypes on myelofibrotic change across patient age and sex.
Aims
To identify differences in the incidence of myelofibrotic change within subgroups of patients with
CALR
type 1 mutations.
Methods
All patients with a positive
CALR
exon 9 mutation identified within our unit between February 2016 and September 2020 were reviewed with note taken of patient sex, age at diagnosis, initial MPN diagnosis, and subsequent disease transformation.
Results
In our cohort, young male patients with
CALR
type 1 mutations were shown to be at significantly increased risk of myelofibrosis compared to age matched female patients.
Conclusions
Male patients have a worse myeloproliferative neoplasm phenotype than female patients with it occurring at a younger age and being more myelofibrotic in nature. Further investigation is needed into the reasons for this variability.