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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.

World Journal of Clinical Cases

|December 21, 2020

Summary

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.

Keywords:

CALR Case report Co-mutation MPL Next-generation sequencing Primary myelofibrosis

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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.