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Pediatric Angiosarcoma with Novel Phenotypic and Genotypic Profile in Chinese Children
Bo Shao1, Yuan Fang1, Yizhen Wang1
1Department of Pathology, Anhui Provincial Children's Hospital, Hefei, China.
Fetal and Pediatric Pathology
|September 13, 2024
Summary
Pediatric angiosarcoma is rare. This study details two cases with unique genetic mutations and clinical presentations, expanding the known spectrum of this rare childhood cancer.
Area of Science:
- Pediatric Oncology
- Rare Cancers
- Genetics
Background:
- Angiosarcoma is an exceptionally rare cancer in children.
- Understanding its diverse presentations and genetic underpinnings is crucial for diagnosis and treatment.
Purpose of the Study:
- To report two pediatric angiosarcoma cases with novel phenotypic and genotypic profiles.
- To expand the understanding of angiosarcoma in the pediatric population.
Main Methods:
- Case series summarizing clinical data, histopathology, immunohistochemistry, and genetic analysis.
- Detailed examination of two pediatric patients diagnosed with angiosarcoma.
Main Results:
- Two Chinese children (ages 2 and 6) presented with abdominal mass or consumptive hypothyroidism.
- One patient had epithelioid angiosarcoma with smooth muscle hyperplasia and novel somatic/germline mutations (FAT1, CDK8, FANCI, MST1R).
- The other patient exhibited a unique clinical phenotype of consumptive hypothyroidism; both showed good recovery post-treatment.
Conclusions:
- These cases broaden the phenotypic and genotypic spectrum of pediatric angiosarcoma.
- Further case accumulation is necessary for a comprehensive understanding of this rare pediatric malignancy.
