Work

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

Year: 2021

Type: article

Abstract: Polycythemia vera (PV) is a myeloproliferative neoplasm primarily characterized by erythrocytosis. PV incidence is exceedingly rare in the pediatric and adolescent population. In adult patients, approximately 96% are found to have a somatic mutation in exon 14 (JAK2 V617F) and 3% display a mutation in exon 12. We present a case of a 2-year-old female with symptomatic PV secondary to a deletion in exon 12 of JAK2, initially treated with phlebotomy and switched to PEG-IFNα-2a therapy. This therapy has been effective over 15 months with resolution of symptoms, reduced phlebotomy requirements, and minimal side effects.

Source: Pediatric Blood & Cancer

DOI: 10.1002/pbc.28994

Authors: Sarah Mc Dermott, Nicole Kucine, Midhat S. Farooqi, Weijie Li, Michael Silvey

Institutions: Children's Mercy Hospital, Weill Cornell Medicine, University of Missouri–Kansas City

Language: English

Topic: Myeloproliferative Neoplasms: Diagnosis and Treatment

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Heart, Lung, and Blood Institute