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Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature
- Source :
- Case Reports in Pathology, Vol 2020 (2020), Case Reports in Pathology
- Publication Year :
- 2020
- Publisher :
- Hindawi Limited, 2020.
-
Abstract
- Pilocytic astrocytoma is a low-grade glial neoplasm of the central nervous system (CNS) that tends to occur in the pediatric population and less commonly presents in adults. Hereditary pilocytic astrocytoma is often associated with germline genetic alterations in the tumor suppressor NF1, the gene responsible for the syndrome neurofibromatosis type 1. Sporadic pilocytic astrocytoma frequently harbors somatic alterations in BRAF, with rare pilocytic astrocytomas containing alterations in FGFR1 and NTRK2. NTRK2 encodes for the protein tropomyosin receptor kinase B (TrkB), which is a neurotrophin receptor with high affinity for Brain-Derived Neurotrophic Factor (BDNF), and plays a role in several physiological functions of neurons, including cell survival and differentiation. In this report, we describe a novel PML-NTRK2 gene fusion occurring in an adult sporadic pilocytic astrocytoma and review the biology and implications of specific NTRK2 mutations occurring in CNS neoplasms.
- Subjects :
- 0301 basic medicine
Pathology
medicine.medical_specialty
Case Report
Tropomyosin receptor kinase B
Receptor tyrosine kinase
Germline
03 medical and health sciences
0302 clinical medicine
Neurotrophic factors
medicine
RB1-214
Neurofibromatosis
neoplasms
Pilocytic astrocytoma
biology
business.industry
Fibroblast growth factor receptor 1
General Medicine
medicine.disease
3. Good health
nervous system diseases
030104 developmental biology
nervous system
030220 oncology & carcinogenesis
biology.protein
business
Neurotrophin
Subjects
Details
- Language :
- English
- ISSN :
- 20906781
- Volume :
- 2020
- Database :
- OpenAIRE
- Journal :
- Case Reports in Pathology
- Accession number :
- edsair.doi.dedup.....a0a036bd9ac706ddfca42c6119e8e73b