To report a rare case of ALK-positive histiocytosis in an infant and identify a novel PTRH2::ALK fusion gene, highlighting its clinical significance.
Key Findings:
The patient was initially misdiagnosed with a liver abscess, underscoring the need for differential diagnosis.
Histopathological examination revealed dermal proliferation of histiocytes and confirmed ALK positivity, indicating the disease's presence.
The novel PTRH2::ALK fusion gene was identified, contributing to the understanding of ALK-positive histiocytosis.
Interpretation:
This case emphasizes the need for accurate diagnosis of ALK-positive histiocytosis in pediatric patients presenting with specific symptoms, such as fever and rashes, to avoid misdiagnosis.
Limitations:
The study is based on a single case report, limiting generalizability and necessitating further studies.
Long-term follow-up data on treatment outcomes are not provided, which is crucial for understanding the disease's progression.
Conclusion:
This case expands the understanding of ALK-positive histiocytosis and highlights the importance of molecular characterization in pediatric cases.
