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Primary Pulmonary Alveolar Rhabdomyosarcoma in a Pediatric Patient: A Case Report With Literature Review
1Department of Anatomic Pathology, King Abdulaziz Medical City, Jeddah, SAU.
Insights
Rhabdomyosarcoma (RMS) is a rare pediatric soft tissue tumor. This case highlights alveolar RMS presenting as a primary lung mass, emphasizing its consideration in pediatric lung nodules.
Area of Science:
- Pediatric Oncology
- Pathology
- Genetics
Background:
- Rhabdomyosarcoma (RMS) is a rare soft tissue sarcoma originating from skeletal muscle, predominantly affecting children.
- The 2020 WHO classification categorizes RMS into embryonal, alveolar, pleomorphic, and spindle cell/sclerosing subtypes.
- Primary lung origin of RMS is exceptionally uncommon.
Observation:
- A 16-month-old boy presented with a primary lung mass.
- Microscopic examination revealed small round blue cell morphology.
- Fluorescence in situ hybridization (FISH) analysis confirmed the diagnosis of alveolar RMS.
Findings:
- The case successfully diagnosed primary alveolar rhabdomyosarcoma of the lung.
- FISH analysis was crucial in confirming the specific subtype and origin.
- This presentation underscores the rarity of primary pulmonary RMS.
Implications:
- RMS should be included in the differential diagnosis for pediatric lung masses with small round blue cell morphology.
- Distinguishing primary pulmonary RMS from metastatic disease and other pediatric lung tumors is critical.
- Accurate diagnosis is essential for appropriate treatment and improved patient outcomes.
Abstract:
Rhabdomyosarcoma (RMS) is a rare soft tissue tumor originating from skeletal muscle that is mostly reported in children. The most common sites of involvement are the head, neck, and extremities. The 2020 WHO classification divide RMS into four types: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Reports of RMS with primary lung origin are rare. We present a case of RMS in a 16-month-old boy who presented with a lung mass and microscopic examination with fluorescence in situ hybridization confirmed the diagnosis of alveolar RMS. In conclusion, RMS should be considered in the differential diagnosis of any lung mass with small round blue cell morphology in the microscopic evaluation and should be distinguished from metastatic RMS of other sites, pleuropulmonary blastoma, lymphoma, neuroblastoma, primitive neuroectodermal tumor (PNET)/EWING, and malignant peripheral nerve sheet tumors (MPNST).
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