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Case Reports
. 2024 Jan 9:13:1338417.
doi: 10.3389/fonc.2023.1338417. eCollection 2023.

Ropeginterferon alfa-2b treatment in a young patient with multi-refractory polycythemia vera and double JAK2 gene mutation: a case report

Silvio Ligia  1 , Emilia Scalzulli  1 , Ida Carmosino  1 , Giovanna Palumbo  1 , Maria Chiara Molinari  1 , Rebecca Poggiali  1 , Alessandro Costa  1 , Maria Laura Bisegna  1 , Maurizio Martelli  1 , Massimo Breccia  1
Affiliations
Case Reports

Ropeginterferon alfa-2b treatment in a young patient with multi-refractory polycythemia vera and double JAK2 gene mutation: a case report

Silvio Ligia et al. Front Oncol. .

Abstract

This case report presents a 3-year-old female patient initially diagnosed with polycythemia vera (PV) in 2001. The patient exhibited elevated red blood cell (RBC) counts, high hemoglobin (Hb) levels, hyperleukocytosis, and moderate thrombocytosis, with sporadic abdominal pain and significant splenomegaly. Despite various treatments, including phlebotomies, hydroxyurea, and alpha-interferon, the patient struggled to maintain optimal hematocrit levels and experienced persistent symptoms. Subsequent genomic analysis revealed a rare JAK2 G301R mutation alongside the canonical JAK2 V617F mutation, potentially contributing to disease severity. In 2023, the patient started Ropeginterferon alfa-2b, leading to improved hematological parameters and symptom relief. The case underscores the challenges in managing PV, particularly in young patients, and highlights the potential clinical significance of additional JAK2 mutations/variants and the potential benefits of Ropeginterferon alfa-2b in achieving better disease control.

Keywords: JAK2 mutations; Ropeginterferon alfa-2b; case report; polycythemia vera; young patient.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

Figures

Figure 1
Figure 1
Evolution of hemoglobin and hematocrit values during treatment with Hydroxyurea (A), Peginterferon alfa-2a (B) and Ropeginterferon alfa-2b (C); the green arrows in (C) indicate the dose increments of the drug up to the maintenance dose of 400 mcg every two weeks.
See this image and copyright information in PMC

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