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Neonatal Soft Tissue Sarcoma with YWHAE-NUTM2B Fusion
Maylis Guizard1, Marie Karanian2,3, Frédérique Dijoud4
1Department of Pediatric and Adolescent Oncology, Centre Leon Berard, Lyon, France.
Neonatal soft tissue sarcoma, a rare cancer, can present as a round-cell sarcoma with a specific YWHAE-NUTM2B gene fusion. This aggressive tumor in a newborn led to a fatal outcome despite treatment.
Area of Science:
- Oncology
- Genetics
- Pediatric Medicine
Background:
- Neonatal soft tissue sarcomas are rare and diverse tumors.
- The YWHAE-NUTM2B fusion gene is typically found in adult sarcomas, not typically in neonatal cases.
Observation:
- A case of neonatal round-cell sarcoma with the YWHAE-NUTM2B fusion gene is presented.
- The infant received neoadjuvant chemotherapy and surgical resection shortly after birth.
Findings:
- The YWHAE-NUTM2B fusion transcript, previously identified in other sarcoma types, is described in a neonatal small round-cell sarcoma.
- Despite aggressive treatment, the patient experienced a rapid and fatal clinical course.
Implications:
- This case highlights the potential for YWHAE-NUTM2B fusion in neonatal soft tissue sarcomas.
- Further research is needed to understand the clinical behavior and treatment strategies for this rare genetic translocation in newborns.
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