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CASE REPORT article

Front. Hematol.
Sec. Blood Cancer
Volume 3 - 2024 | doi: 10.3389/frhem.2024.1508463
This article is part of the Research Topic Current Concepts on Clonal Hematopoiesis in Hematological Disorders View all articles

Ruxolitinib and Peg-Interferon in Chronic neutrophilic leukemia due to CSF3R germline pathogenic variant: a case report

Provisionally accepted
Selene Grano Selene Grano 1*Valentina Bonuomo Valentina Bonuomo 2Diana Carli Diana Carli 3Veronica Peri Veronica Peri 2Loredana Farinasso Loredana Farinasso 4Ugo Ramenghi Ugo Ramenghi 4Daniela Cilloni Daniela Cilloni 2Carmen Fava Carmen Fava 2
  • 1 Department of Molecular Biotechnology and Health Sciences, School of Medicine, University of Turin, Torino, Piedmont, Italy
  • 2 Department of Clinical and Biological Sciences, School of Medicine, University of Turin, Turin, Piedmont, Italy
  • 3 Department of Medical Sciences, University of Turin, Turin, Italy
  • 4 Department of Sciences of Public Health and Pediatrics, Turin, Italy

The final, formatted version of the article will be published soon.

    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 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 (VAF 50.4%). Although this variant has been debated, it is now widely recognized as a benign polymorphism and with current evidence 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.

    Keywords: case report, Chronic neutrophilic leukemia, Myeloproliferative neoplasm, CSF3R mutation, NGS

    Received: 09 Oct 2024; Accepted: 19 Nov 2024.

    Copyright: © 2024 Grano, Bonuomo, Carli, Peri, Farinasso, Ramenghi, Cilloni and Fava. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Selene Grano, Department of Molecular Biotechnology and Health Sciences, School of Medicine, University of Turin, Torino, 10126, Piedmont, Italy

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