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Complete resolution of primary myelofibrosis in an infant with steroids and hydroxyurea
Sanjeev Khera1, Priyanka Misra2, Kanwaljeet Singh2
1Pediatrics, Army Hospital Research and Referral, New Delhi, Delhi, India kherakherakhera@gmail.com.
Insights
Paediatric primary myelofibrosis (PMF) is rare, with high-risk stem cell transplant mortality. Combination therapy with steroids and hydroxyurea achieved complete remission in a PMF infant, suggesting a potential alternative treatment.
Area of Science:
- Hematology
- Pediatric Oncology
Background:
- Paediatric primary myelofibrosis (PMF) is a rare hematologic disorder distinct from adult PMF.
- Diagnosis is challenging due to the absence of established criteria, often relying on exclusion.
- Key features include cytopenias, leucoerythroblastosis, fibrosis, extramedullary hematopoiesis, and hepatosplenomegaly.
Observation:
- Hematopoietic stem cell transplant (HSCT) is the primary treatment but carries high mortality (30%-45%) in children.
- Spontaneous remission or response to steroids/cytoreductive agents occurs in approximately 20% of paediatric PMF cases.
- A case study involved an infant with PMF experiencing complete remission with combination therapy.
Findings:
- The infant with PMF achieved complete remission of clinical and hematological parameters.
- Treatment involved a combination of steroids and hydroxyurea.
- This suggests a potential therapeutic benefit of non-transplant approaches.
Implications:
- For transfusion-dependent paediatric PMF, considering a trial of steroids and/or cytoreductive agents alongside HSCT evaluation is prudent.
- This approach may offer a less toxic alternative or bridge to transplant.
- Further research into non-transplant therapies for paediatric PMF is warranted.
Abstract:
Paediatric primary myelofibrosis (PMF) is exceedingly rare and distinct compared with adult PMF. It is characterised by peripheral blood cytopenias, leucoerythroblastosis, reticulin fibrosis, extramedullary haematopoiesis and hepatosplenomegaly. In the absence of laid down diagnostic criteria, the diagnosis is largely of exclusion. Though early haematological stem cell transplant (HSCT) remains the treatment of choice, spontaneous remission or remission with steroids and/or cytoreductive agents is described in around 20% of cases of paediatric PMF. Moreover, HSCT in paediatric PMF is associated with high mortality (30%-45%). Therefore, it may be prudent to consider a trial of steroids and/or cytoreductive agents in all transfusion-dependent paediatric PMF while considering HSCT and ongoing bone marrow donor search. We describe one such infant with PMF who had complete remission of clinical and haematological parameters with a combination therapy of steroids and hydroxyurea.
