Primary myelofibrosis with concurrent and mutations: A case report.

BACKGROUND

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by recurrent mutations in the , , and genes. The and 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 and 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 , , and , while and 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 and genes, and discuss the reason why the and co-mutations are rare and possible mechanisms and their impact on the prognosis of patients.

CONCLUSION

and mutations can be concurrent in MPN, but they are rare. The use of NGS may help to identify more patients with co-mutated and genes. This will help to further explore the mechanism and its impact on these patients to develop appropriate treatment strategies.