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Primary myelofibrosis with concurrent CALR and MPL mutations: A case report
Feng-Ping Zhou1, Cheng-Cheng Wang2, Hua-Ping Du1
1Department of Hematology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, Zhejiang Province, China.
Background:
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by recurrent mutations in the JAK2, CALR, and MPL genes. The CALR and MPL co-mutation is very rare. To our knowledge, no more than five cases have been reported. Here, we report a case of PMF in which a CALR and MPL co-mutation was detected by next-generation sequencing (NGS) technology, and a literature review was performed.
Case Summary:
A 73-year-old woman was admitted to our hospital in 2018 due to abdominal distension. The patient had splenomegaly, lymphadenopathy, leukopenia, anemia, and immature granulocytes in peripheral blood. There were dacrocytes and atypical megakaryocytes in bone marrow, and megakaryocytic proliferation was very active, accompanied by reticulin fibrosis grade 2. By NGS analysis of the bone marrow sample, we detected mutations in CALR, MPL, and PIK3RI, while JAK2 V617F and BCR-ABL were negative. Therefore, the patient was diagnosed with PMF and received oral ruxolitinib. However, the spleen and hematologic responses were poor. We review the literature, analyze previous reports of the mutation sites in our patient and differences between our patient and other reported cases of co-mutated CALR and MPL genes, and discuss the reason why the CALR and MPL co-mutations are rare and possible mechanisms and their impact on the prognosis of patients.
Conclusion:
CALR and MPL mutations can be concurrent in MPN, but they are rare. The use of NGS may help to identify more patients with co-mutated CALR and MPL genes. This will help to further explore the mechanism and its impact on these patients to develop appropriate treatment strategies.
Insights
Concurrent CALR and MPL mutations in primary myelofibrosis (PMF) are rare but identifiable with next-generation sequencing (NGS). This case highlights the need for further research into these co-mutations for improved treatment strategies.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) often associated with mutations in JAK2, CALR, and MPL genes.
- Co-occurrence of CALR and MPL mutations in PMF is exceedingly rare, with limited documented cases.
- Next-generation sequencing (NGS) is a powerful tool for identifying complex genetic mutations in hematologic malignancies.
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