Ruxolitinib and pegylated interferon in Chronic Neutrophilic Leukemia due to a pathogenic CSF3R germline variant: a case report
Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm characterized by CSF3R mutations. Here, we report the first case of a CNL patient positive for a de-novo germline CSF3R T618I variant effectively treated with ruxolitinib and pegylated interferon (peg-IFN), obtaining normaliza...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2024-12-01
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| Series: | Frontiers in Hematology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/frhem.2024.1508463/full |
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| Summary: | Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm characterized by CSF3R mutations. Here, we report the first case of a CNL patient positive for a de-novo germline CSF3R T618I variant effectively treated with ruxolitinib and pegylated interferon (peg-IFN), obtaining normalization of blood counts and maintaining good disease control for over 8 years. In addition, the RUNX1 L56S variant was detected at diagnosis and confirmed in subsequent next-generation sequencing (variant allele frequency of 50.4%). Although this variant has been debated, it is now widely recognized as a benign polymorphism and current evidence shows it does not modify prognosis. Our report adds to the growing body of evidence confirming the importance of a good evaluation of the mutational status of driver mutations in the setting of germline variants. |
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| ISSN: | 2813-3935 |