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Extracalvarial Composite Infantile Myofibromatosis: Case Report and Literature Review
Alexander Ivanov1, Tibor Valyi-Nagy2, Dimitrios Nikas1
1Department of Neurosurgery, University of Illinois at Chicago, Chicago, Illinois, United States.
Insights
This study reports a rare composite infantile myofibromatosis in a newborn, presenting unusual histopathological features. Despite concerning signs, the tumor showed a benign clinical course, highlighting diagnostic and treatment considerations for infantile soft tissue tumors.
Area of Science:
- Pediatric Oncology
- Dermatopathology
- Soft Tissue Tumors
Background:
- Infantile soft tissue tumors, particularly of the head, are rare, with myofibromas being the most common type.
- Composite infantile myofibromatosis is an exceptionally rare condition characterized by a mix of distinct histopathological features.
Observation:
- A case study of a 1-day-old infant with a scalp tumor exhibiting features of myofibroma, hemangiopericytoma, and fibrosarcoma is presented.
- Genetic testing for common infantile myofibromatosis-associated abnormalities (trisomy 17, t(12;15), FUS, ETV6 translocations) was negative.
Findings:
- The diagnosis of composite infantile myofibromatosis was established based on the unique histopathological findings.
- Despite histopathological indicators suggesting a potentially aggressive tumor, the infant's clinical course was benign.
Implications:
- This case underscores the importance of thorough histopathological evaluation for diagnosing rare pediatric soft tissue tumors.
- Understanding the variable clinical behavior of composite infantile myofibromatosis is crucial for appropriate management and treatment strategies.
Abstract:
Infantile soft tissue tumors of the head are very rare and the majority of them are myofibromas. The authors present the case of a 1-day-old boy with a scalp tumor with several distinct histopathological features including myofibroma, hemangiopericytoma, and fibrosarcoma consistent with the diagnosis of composite infantile myofibromatosis. Genetic testing was negative for trisomy 17, translocation (12; 15), FUS, and ETV6 translocations. Despite the ominous histopathological features, the clinical course was benign. The authors review here available literature concerning current concepts of making the diagnosis of composite infantile myofibromatosis and discuss treatment options.
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