A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case.
CNS tumor
KIT alteration
congenital mastocytosis
hearing loss
microtia
tyrosine kinase inhibitor
Journal
Current oncology (Toronto, Ont.)
ISSN: 1718-7729
Titre abrégé: Curr Oncol
Pays: Switzerland
ID NLM: 9502503
Informations de publication
Date de publication:
03 10 2023
03 10 2023
Historique:
received:
29
08
2023
revised:
23
09
2023
accepted:
01
10
2023
medline:
30
10
2023
pubmed:
27
10
2023
entrez:
27
10
2023
Statut:
epublish
Résumé
Mastocytosis is a heterogeneous group of rare hematological disorders that can occur in infancy. We report a 16-year-old girl who presented with an aggressive form of systemic congenital mastocytosis, associated with a significant global developmental delay, deafness, and multiple anomalies. At 4 years of age, she developed a germinoma presenting as an invasive spinal mass. Extensive cytogenetic, metabolic, and molecular genetic studies that included whole-exome sequencing studies revealed a
Identifiants
pubmed: 37887549
pii: curroncol30100649
doi: 10.3390/curroncol30100649
pmc: PMC10605361
doi:
Substances chimiques
Proto-Oncogene Proteins c-kit
EC 2.7.10.1
Types de publication
Review
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
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