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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.
Background:
Primary myelofibrosis (PMF) is quite rare in children. Mutations of JAK2(V617F) or MPL(W515K/L) were absent in pediatric patients with PMF according to previous studies. Recently, mutations in calreticulin (CALR) were described in adult patients with JAK2/MPL-unmutated PMF. Our study aimed to analyze the clinical and genetic features of Chinese pediatric patients with PMF.
Procedures:
We retrospectively investigated 14 pediatric patients diagnosed as PMF according to WHO 2008 criteria. Direct sequencing was performed for the existence of genetic alterations in JAK2, MPL, TET2, CBL, ASXL1, IDH1, IDH2, SRSF2, EZH2, DNMT3A and CALR.
Results:
In our cohort, all patients had anemia, three patients (21%) had splenomegaly, six patients (43%) had micromegakaryocytes at time of diagnosis. No patient had spontaneous remission and six patients (43%) transformed to acute myelocytic leukemia. In nine patients with evaluable cytogenetic information, three subjects (33%) had abnormal karyotypes. The median survival from time of diagnosis was 28 months. Seven patients (50%) had type 2 mutations of CALR. No patient had mutations in the other candidate genes. There was no statistical differences in age, gender, hemoglobin, WBC, neutrophil and platelet counts, percentage of circulating blast, overall survival and leukemia transformation between patients with and without CALR mutation.
Conclusion:
Our study documented that Chinese pediatric patients with PMF in our cohort had its own clinical characteristics and poor outcome. CALR mutations were detected in 50% of our pediatric patients with PMF. Based on our study, CALR mutations screening could be used as molecular marker for diagnosis of pediatric patients with PMF.
Insights
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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