From Banding to BAM Files: Genomics Informs Diagnosis and Precision Medicine for Brain Tumors

Adrian M Dubuc

doi:10.1016/j.path.2020.02.007

From Banding to BAM Files: Genomics Informs Diagnosis and Precision Medicine for Brain Tumors

Surg Pathol Clin. 2020 Jun;13(2):343-347. doi: 10.1016/j.path.2020.02.007.

Author

Adrian M Dubuc¹

Affiliation

¹ Department of Pathology, Harvard Medical School, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. Electronic address: adubuc@bwh.harvard.edu.

PMID: 32389271
DOI: 10.1016/j.path.2020.02.007

Abstract

Tumors of the central nervous system (CNS) have been historically classified according to their morphologic and immunohistochemical features. In 2016, updates to the classification of tumors of the CNS by the World Health Organization revolutionized this paradigm. For the first time, genomic findings, whether whole-arm chromosomal aberrations or single nucleotide variants, represent a necessary and critical component of diagnosis, contributing or superseding histologic findings. These updates stem from decades of technical innovation and genomic discovery. During this time, there has been a dramatic expansion and evolution in clinical genomic assays for these tumors, informing diagnosis and guiding therapeutic management.

Keywords: Brain tumors; Central nervous system (CNS); Cytogenetics; Epigenomics; Genomics; Next-generation sequencing.

Publication types

Review

MeSH terms

Brain Neoplasms / diagnosis*
Brain Neoplasms / genetics
Brain Neoplasms / therapy
Exome Sequencing / methods
Genetic Markers / genetics
Humans
Karyotyping* / methods
Precision Medicine* / methods

Substances

Genetic Markers