JAK2, MPL, and CALR mutations in children with essential thrombocythemia
- 671 Downloads
Essential thrombocythemia (ET) is an intractable clonal stem cell disorder characterized by a marked increase in platelet count . It is extremely rare among children. Somatic mutations in JAK2 and MPL cause ET, and recent comprehensive genomics studies of adult ET have identified CALR, which encodes calreticulin, as a novel causative gene. Subsequent study revealed that genotype defines the clinical characteristics of ET ; patients with JAK2 mutations are at higher risk of thrombosis than those with CALR mutations. These findings highlight the clinical importance of molecular diagnosis.
The clinical presentation and genetic determinants of ET may differ between adult and pediatric cases . Pediatric patients with ET have a lower risk of vascular complications and transformation to myelofibrosis than do adult patients. Several groups have reported that frequencies of JAK2 and MPLmutations are lower among children. We hypothesized that these differences might be attributable to...
KeywordsPediatric Patient Somatic Mutation Essential Thrombocythemia Myelofibrosis Adult Cohort
Compliance with ethical standards
Conflict of interest
There are no relevant conflicts of interest to disclose.