Polycythemia vera in a 2‐year‐old child with a <i>JAK2</i> exon 12 deletion

Dermott, Sarah E Mc; Kucine, Nicole; Farooqi, Midhat S.; Li, Weijie; Silvey, Michael

doi:10.1002/pbc.28994

Cited by 2 publications

(2 citation statements)

References 24 publications

(22 reference statements)

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“…Furthermore, most existing analyses regarding the efficacy of different treatment modalities pertain to adult patients. Conventionally, patients with PV have been managed with some combination of phlebotomy, low-dose aspirin, and cytoreductive therapies like hydroxyurea and interferon alpha or pegylated interferon alfa-2a 2,11. Bone marrow transplantation is the only curative treatment.…”

Section: Discussionmentioning

confidence: 99%

“…Conventionally, patients with PV have been managed with some combination of phlebotomy, low-dose aspirin, and cytoreductive therapies like hydroxyurea and interferon alpha or pegylated interferon alfa-2a. 2,11 Bone marrow transplantation is the only curative treatment. The RESPONSE trial, a phase 3 study comparing the safety and efficacy of ruxolitinib with traditional therapy for PV in adult patients, illustrated the promise of targeted JAK1/2 inhibitor therapy for the management of PV.…”

Section: Discussionmentioning

confidence: 99%

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Ruxolitinib in a Child With JAK2 Exon 12 Mutant Polycythemia Vera

Stoops¹,

Kuril²

2022

Journal of Pediatric Hematology/Oncology

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Background: Polycythemia Vera (PV) is a well-defined disorder of erythroid hyperproliferation that can result in life-threatening thromboembolic and hemorrhagic events. It is most prevalent in adults and is caused by mutations in Janus Kinase 2 (JAK2). Predominantly, PV is caused by a JAK2V617F mutation on exon 14. Observations: A rare case of PV in a 9-year-old, driven by an uncommon, p.Glu543_Asp544del, JAK2 exon 12 mutation. Despite management with phlebotomy, aspirin and hydroxyurea, the patient suffered a dural sinus venous thrombosis, prompting a change in therapy to Ruxolitinib. Conclusions: This is the first description of the successful use of ruxolitnib to treat a pediatric patient with PV caused by a JAK2 exon 12 mutation.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Ruxolitinib in a Child With JAK2 Exon 12 Mutant Polycythemia Vera

Stoops¹,

Kuril²

2022

Journal of Pediatric Hematology/Oncology

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Pediatric Philadelphia-Negative Myeloproliferative Neoplasms in the Era of WHO Classification: A Systematic Review

et al. 2023

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Background: Philadelphia-negative myeloproliferative neoplasms (MPN) are most prevalent in the older population (median age at the diagnosis is above 60 years) and rarely diagnosed in pediatrics. Thus, our knowledge about the clinical presentation, mutational status, and complications of MPNs in pediatrics is limited. Methods: The literature in English (PubMed, SCOPUS, and Google Scholar) was searched for studies, reviews, case series, and case reports of patients with Philadelphia-negative MPNs (including essential thrombocythemia, polycythemia vera, primary myelofibrosis, and profibrotic myelofibrosis) in the pediatrics age group (less than 18 years). Only studies that fulfilled WHO 2008 or 2016 criteria for MPNs were included. We aimed to describe the clinical characteristics, vascular and long-term complications, types of driver mutations, and treatment approaches in pediatric patients with MPNs. Results: We reviewed 33 articles of available published literature from 2008 to 2022 and collected data from a total of 196 patients of the pediatric population. Among the cohort of patients, 139 had essential thrombocythemia (ET), 20 had polycythemia vera (PV), and 37 had primary myelofibrosis (PMF). The median age at the time of diagnosis for each disease varied, with 8.8 years for ET, 10 years for PV, and 3.6 years for MF. There was a slight difference in gender prevalence between both gender groups and all three diseases. The presenting symptoms were not mentioned in more than 50% of studies. We found that JAK2 was the most prevalent among all mutations. Both bleeding and thrombosis were present equally in ET, with 9% of cases complicated by bleeding and 9% complicated by thrombosis. Hemorrhagic events did not occur in patients with PV; thrombosis in children with MF was also not found. The progression into AML occurred in two patients with PV and one with ET. Conclusion: Given the rarity of MPNs in pediatrics and their different characteristics compared with adults, we believe there is a need for unique diagnostic criteria to match the different molecular statuses in pediatrics. Based on our review, the incidence of MPN complications in pediatrics, including thrombotic events, hemorrhage, and leukemic transformation, differs from that in adults.

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Polycythemia vera in a 2‐year‐old child with a JAK2 exon 12 deletion

Abstract: Polycythemia vera in a 2-year-old child with a JAK2 exon 12 deletionTo the Editor:Polycythemia vera (PV) is a classical myeloproliferative neoplasm primarily characterized by overproduction of erythrocytes. As defined

Cited by 2 publications

References 24 publications

Ruxolitinib in a Child With JAK2 Exon 12 Mutant Polycythemia Vera

Ruxolitinib in a Child With JAK2 Exon 12 Mutant Polycythemia Vera

Pediatric Philadelphia-Negative Myeloproliferative Neoplasms in the Era of WHO Classification: A Systematic Review

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