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Myeloproliferative Neoplasm With Eosinophilia Exhibiting a Rare GOLGA4-PDGFRB Rearrangement in an Infant: Navigating
Yamini Krishnan1, Smitha Bhaskaran1, Gazel Sainulabdin1
1Department of Paediatric Haematology Oncology and Bone Marrow Transplantation, MVR Cancer Centre and Research Institute, Kozhikode, Kerala.
Abstract:
Myeloid/lymphoid neoplasms with eosinophilia (MLN-eos) are rare hematological malignancies in childhood and limited to isolated case reports in the literature. We discuss the case of an infant who was evaluated for persistent hypereosinophilia and diagnosed with a rare genetic rearrangement; GOLGA4::PDGFRB was previously reported only once in a 13-month-old boy. A literature review of all children with PDGFRB rearrangement was collated in our analysis. The challenges of diagnosis, treatment, and follow-up posed by such a rare genetic disorder with no pediatric guidelines are being discussed.
Insights
Pediatric myeloid/lymphoid neoplasms with eosinophilia (MLN-eos) are rare. This case highlights a GOLGA4::PDGFRB rearrangement in an infant, emphasizing diagnostic and treatment challenges for these rare genetic disorders.
Area of Science:
- Hematology
- Pediatric Oncology
- Genetics
Background:
- Myeloid/lymphoid neoplasms with eosinophilia (MLN-eos) are rare hematologic malignancies in children.
- Existing literature primarily consists of isolated case reports.
Purpose of the Study:
- To report a case of a rare GOLGA4::PDGFRB genetic rearrangement in an infant with MLN-eos.
- To review and analyze pediatric cases with PDGFRB rearrangements.
- To discuss diagnostic, treatment, and follow-up challenges for rare pediatric genetic disorders.
Main Methods:
- Case presentation of an infant with persistent hypereosinophilia.
- Diagnostic evaluation including genetic analysis.
- Comprehensive literature review of pediatric cases with PDGFRB rearrangement.
Main Results:
- Diagnosis of a rare GOLGA4::PDGFRB genetic rearrangement in the infant.
- Identification of limited prior reports of this specific rearrangement in pediatric patients.
- Compilation of a literature review on PDGFRB rearrangements in children.
Conclusions:
- The GOLGA4::PDGFRB rearrangement is an exceptionally rare genetic finding in pediatric MLN-eos.
- There is a significant lack of established pediatric guidelines for managing such rare genetic hematologic malignancies.
- Challenges in diagnosis, treatment, and long-term follow-up necessitate further research and case reporting.
