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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.

case reports in pathology

<i>Neurotrophic Receptor Tyrosine Kinase 2</i> (<i>NTRK2</i>) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature

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