Neurological malignancies in neurofibromatosis type 1

Purpose of review The current review summarizes recent advances on three important issues in neurofibromatosis type 1 (NF1) management: the identification of specific NF1 gene mutations predicting the risk for developing neurological malignancies; the molecular features of NF1-associated tumors and their differences from sporadic neoplasms; genetic, epigenetic, or microenviromental factors leading benign tumors to a malignant transformation in NF1. Recent findings The association between the risk of developing optic pathway glioma and specific germiline NF1 mutations is still debated and further studies are needed with large, new cohorts of patients. The available evidences suggest that gliomas and malignant peripheral nerve sheath tumors (MPNSTs) in NF1 have a distinct genetic signatures, different from those observed in sporadic neoplasms. Some neoplasms, very rare in general population, such as subependymal giant cell astrocytoma, can be observed in NF1. A subgroup of low-grade NF1-gliomas, some MPNSTs and plexiform neurofibromas contain abundant T lymphocyte infiltrates suggesting that immunotherapy could be a potential therapeutic approach. Summary These data support the notion that next-generation sequencing efforts are helpful in the genetic characterization of NF1-associated malignancies A better knowledge of those tumors at the genomic level, is essential for addressing new treatments and may contribute to a deeper comprehension of NF1/RAS signaling also in s...
Source: Current Opinion in Oncology - Category: Cancer & Oncology Tags: BRAIN AND NERVOUS SYSTEM: Edited by Marc Sanson Source Type: research

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Since Invitae’s inception a decade ago, the firm has been working for the proactive use of genetic information in mainstream medicine. The San Francisco, CA-based company has been using M&A activity to help bring companies under its tent to help make this goal a reality. On Monday, the genetic-testing specialist made more progress on this front by announcing it would put down $50 million to acquire Clear Genetics, a company that develops digital counseling software. San Francisco, CA-based Clear Genetics has developed Gia, a chatbot that equips patients with actionable information throughout the genetic t...
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Authors: Pan Y, Bush EC, Toonen JA, Ma Y, Solga AC, Sims PA, Gutmann DH Abstract The concept that solid tumors are maintained by a productive interplay between neoplastic and non-neoplastic elements has gained traction with the demonstration that stromal fibroblasts and immune system cells dictate cancer development and progression. While less studied, brain tumor (glioma) biology is likewise influenced by non-neoplastic immune system cells (macrophages and microglia) which interact with neoplastic glioma cells to create a unique physiological state (glioma ecosystem) distinct from that found in the normal tissue. ...
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