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Updated: Apr 24, 2026
Genetic Variant Detection in the CALR gene using High Resolution Melting Analysis
Published on: August 26, 2020
CALR mutation screening in pediatric primary myelofibrosis
1Pediatric Blood Diseases Centre, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; State Key Laboratory of Experimental Hematology, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
Calreticulin (CALR) mutations are common in Chinese pediatric patients with primary myelofibrosis (PMF), affecting 50% of cases. This finding suggests CALR mutation screening can aid in diagnosing pediatric PMF.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Primary myelofibrosis (PMF) is a rare pediatric malignancy.
- JAK2 and MPL mutations are typically absent in pediatric PMF.
- Calreticulin (CALR) mutations are identified in adult PMF, prompting investigation in pediatric cases.
Purpose of the Study:
- To investigate the clinical and genetic characteristics of Chinese pediatric patients diagnosed with PMF.
- To determine the frequency and significance of CALR mutations in pediatric PMF.
Main Methods:
- Retrospective analysis of 14 pediatric PMF patients.
- Genetic analysis including sequencing for JAK2, MPL, TET2, CBL, ASXL1, IDH1, IDH2, SRSF2, EZH2, DNMT3A, and CALR mutations.
Main Results:
- All patients presented with anemia; 43% showed micromegakaryocytes.
- 50% of patients harbored CALR type 2 mutations; no other mutations were found.
- Median survival was 28 months, with 43% transforming to acute myelocytic leukemia.
Conclusions:
- Chinese pediatric PMF exhibits distinct clinical features and a poor prognosis.
- CALR mutations are prevalent in pediatric PMF, occurring in 50% of cases.
- CALR mutation screening is a valuable diagnostic marker for pediatric PMF.
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