Malignant brain tumor in an infant showing histopathological features of yolk sac tumor but genetic and epigenetic features of AT/RT.
Pediatr Blood Cancer
; 68(9): e29192, 2021 09.
Article
in En
| MEDLINE
| ID: mdl-34185381
ABSTRACT
SMARCA4 pathogenic variants are rarely detected in pediatric brain tumors other than atypical teratoid rhabdoid tumors (AT/RTs) without INI1 deficiency or in some cases of medulloblastoma. Here, we report an atypical intracranial immature teratoma that recurred as a yolk sac tumor with metastatic spinal and lung lesions. Sequencing of the tumor revealed two SMARCA4 variants, including a splice-site variant and a non-synonymous variant of uncertain significance. Additionally, the methylation signature of the tumor was close to that of AT/RTs. Our case might be a yet-unrecognized subtype of pediatric tumors in which inactivation of SMARCA4 contributes to the pathogenesis.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Teratoma
/
Brain Neoplasms
/
Rhabdoid Tumor
/
Endodermal Sinus Tumor
Limits:
Humans
/
Infant
Language:
En
Journal:
Pediatr Blood Cancer
Year:
2021
Document type:
Article