Histopathologic "Evolution" in Pediatric Primary Intracranial High-Grade Sarcoma - a Key that Unlocked the Correct Diagnosis.
DICER1 mutation
Histopathology
NGS based assay
Pediatric intracranial sarcoma
Rhabdomyoblasts
Journal
Annals of clinical and laboratory science
ISSN: 1550-8080
Titre abrégé: Ann Clin Lab Sci
Pays: United States
ID NLM: 0410247
Informations de publication
Date de publication:
Jul 2023
Jul 2023
Historique:
medline:
28
8
2023
pubmed:
26
8
2023
entrez:
25
8
2023
Statut:
ppublish
Résumé
Central nervous system (CNS) tumors are the second most common in the pediatric age group, accounting for 3.5% of overall mortality. The 2021 World Health Organization (WHO) classification of pediatric CNS tumors has given insight into their molecular biology. Correct diagnosis of high-grade intracranial sarcomas is a well-known challenge because of their histopathological variation, presence of heterologous elements, and haphazard pattern of growth. We present a case of a 13-year-old female with a right-sided frontal hemorrhagic mass. Pathological work-up revealed an intra-cranial high-grade sarcoma, not otherwise specified (NOS). Despite receiving chemo-radiation, the lesion recurred after 9 months. This time, the sarcoma had evolved, showing distinct focal rhabdomyoblastic differentiation. Next-generation sequencing (NGS) based assay revealed variants p.E1705V, p.Y1417Ter in
Substances chimiques
DICER1 protein, human
EC 3.1.26.3
Ribonuclease III
EC 3.1.26.3
DEAD-box RNA Helicases
EC 3.6.4.13
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
661-666Informations de copyright
© 2023 by the Association of Clinical Scientists, Inc.