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[Infantile fibrosarcoma: a clinicopathological and molecular study of five cases]
1Service d'anatomie et cytologie pathologiques, Institut Salah Azaiez, Bab Saadoun, 1006 Tunis.
Insights
Infantile fibrosarcoma, a congenital tumor in infants, typically presents in extremities and shows a favorable prognosis with surgical treatment. Histological analysis and detection of ETV6-NK3 gene fusion aid in diagnosis.
Area of Science:
- Pediatric Oncology
- Surgical Pathology
- Molecular Diagnostics
Background:
- Infantile fibrosarcoma is a rare soft tissue tumor affecting newborns and infants.
- Congenital presentation is common, often involving the extremities.
Observation:
- A cohort of 5 infantile fibrosarcoma cases (4 male, 1 female) with a mean age of 5.7 months was analyzed.
- Tumors were congenital in 4 cases and presented in the extremities (forearm, hand, thigh, lower leg).
- Histological features included dense monotonous cells in a fascicular pattern, high mitotic index (8/10 HPF), necrosis, and lymphocytes.
Findings:
- Surgical treatment (amputation or local excision) resulted in a favorable outcome in all cases, with follow-up ranging from 5 to 21 years.
- ETV6-NK3 chimeric RNA was detected in 2 out of 4 tested cases using reverse transcriptase polymerase chain reaction on paraffin-embedded tissues.
- The study highlights specific histological characteristics and the ETV6-NK3 gene fusion as diagnostic markers.
Implications:
- Infantile fibrosarcoma demonstrates a good prognosis, emphasizing the importance of timely surgical intervention.
- The identification of the ETV6-NK3 gene fusion provides a molecular marker for diagnosis and potentially targeted therapies.
- Understanding these features aids in accurate diagnosis and management of infantile fibrosarcoma.
Abstract:
We report 5 cases of infantile fibrosarcoma (4 boys and 1 girl) whose average age was 5, 7 months (range 0 days to 14 months). The tumor was congenital in 4 cases. All tumors presented in the extremities (forearm, hand, thigh: 1 case, lower leg: 2 cases). Treatment was based on surgery (3 cases: amputation, 2 cases: local excision) with a favorable course in all cases, even those with marginal excision (follow-up ranging from 5 to 21 years). The lesions were characterized by dense monotonous cells growing in a fascicular pattern, with small necrotic areas and scattered lymphocytes. The mitotic index was high (average 8/10 high-power fields). ETV6-NK3 chimeric RNA was detected by reverse transcriptase polymerase chain reaction in two cases out four cases from paraffin-embedded tissue blocks. The infantile fibrosarcoma is a good prognosis tumor characterized by particular histological features and ETV6-NK3 gene fusion.