Edina Komlodi-Pasztor1, Jaishri O Blakeley2. 1. Department of Neurology, Division of Neuro-Oncology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Meyer 100, MD, 21287, Baltimore, USA. 2. Department of Neurology, Division of Neuro-Oncology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Meyer 100, MD, 21287, Baltimore, USA. JBLAKEL3@JHMI.EDU.
Abstract
PURPOSE OF REVIEW: Although genetic conditions that cause primary central nervous system tumors are rare, their pathophysiology influences both treatment and surveillance. This article reviews the most frequently occurring genetic conditions associated with brain cancers and highlights the most recent therapeutic approaches in the treatment of Lynch syndrome (and other disorders of the mismatch repair system), neurofibromatosis 1, and Li-Fraumeni syndrome. RECENT FINDINGS: Recent advances in molecular diagnostics have considerably improved the ability to diagnose genetic conditions in people with primary brain tumors. The common application of next-generation sequencing analyses of tissue increases the frequency with which clinicians are forced to address the possibility of an underlying genetic condition based on tissue molecular findings. Clinicians must be aware of the clinical presentation of genetic conditions predisposing to brain tumors in order to discern which patients are appropriate for germline genetic testing. Advances in therapeutics for specific genetic variants are increasingly available, and accurately diagnosing an underlying genetic condition may directly impact patient outcomes.
PURPOSE OF REVIEW: Although genetic conditions that cause primary central nervous system tumors are rare, their pathophysiology influences both treatment and surveillance. This article reviews the most frequently occurring genetic conditions associated with brain cancers and highlights the most recent therapeutic approaches in the treatment of Lynch syndrome (and other disorders of the mismatch repair system), neurofibromatosis 1, and Li-Fraumeni syndrome. RECENT FINDINGS: Recent advances in molecular diagnostics have considerably improved the ability to diagnose genetic conditions in people with primary brain tumors. The common application of next-generation sequencing analyses of tissue increases the frequency with which clinicians are forced to address the possibility of an underlying genetic condition based on tissue molecular findings. Clinicians must be aware of the clinical presentation of genetic conditions predisposing to brain tumors in order to discern which patients are appropriate for germline genetic testing. Advances in therapeutics for specific genetic variants are increasingly available, and accurately diagnosing an underlying genetic condition may directly impact patient outcomes.
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