Pediatric Myelofibrosis: A Rare Entity Posing a Diagnostic Challenge

Abstract

Myeloproliferative neoplasms are clonal hematopoietic stem cell disorders showing proliferation of one or more myeloid lineages. These disorders are characterized by Janus Kinase 2 (JAK2 V617F), Myeloproliferative leukemia (MPL), and Calreticulin (CALR) gene mutations and are seen more commonly in the elderly. These pathognomonic mutations are often absent in children and hence pose a diagnostic challenge. The entire onus of correct diagnosis relies heavily on detailed clinical and laboratory investigations. In the present work, we discuss 4 cases of pediatric myelofibrosis, three of which were secondary to hematolymphoid malignancies, while the remaining one had primary myelofibrosis. Pediatric primary myelofibrosis is a rare entity in children and quite different from adult primary myelofibrosis. The cases in our study show transformation into acute myeloid leukemia, which is associated with an adverse prognosis. Given the rarity of myelofibrosis in children, early and correct diagnosis helps in timely initiation of treatment, which may favorably alter the prognosis.