Pediatric Angiosarcoma with Novel Phenotypic and Genotypic Profile in Chinese Children.
Fetal Pediatr Pathol
; : 1-11, 2024 Sep 13.
Article
em En
| MEDLINE
| ID: mdl-39269732
ABSTRACT
Introduction:
Angiosarcoma is an exceedingly rare entity in pediatric population. Herein, we report two pediatric angiosarcoma with novel phenotypic and genotypic profile.Methods:
The two patients' information was summarized by clinical data, histopathology, immunohistochemistry, genetic, treatment, and prognosis.Results:
Two Chinese children presented with abdominal mass or consumptive hypothyroidism at 2 and 6 years. A patient presented with a unique histopathology of epithelioid AS with smooth muscle hyperplasia, and carried a novel somatic mutation in FAT1 (c.3929C > T/p. Ser1310Leu) along with germ-line variants in CDK8 (c.895A > C/p. Lys299Gln), FANCI (c.3906-07inv/p. Glu1303Lys), and MST1R (c.3581-83delinsACG/p. Arg1194-Ser1195delinsHisGly). The other patient presented with a novel -clinical phenotype of consumptive hypothyroidism. They received postoperative treatment and were monitored for 20 and 26 months, showing good recovery.Conclusion:
The phenotypic and genotypic spectrum of AS in pediatric population was expanded by these two patients, which requires the accumulating more cases to gain a deeper understanding.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Fetal Pediatr Pathol
/
Fetal and pediatric pathology
/
Fetal pediatr. pathol
Assunto da revista:
PATOLOGIA
/
PEDIATRIA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China
País de publicação:
Reino Unido