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Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors-A prospective study and guidelines for clinical testing.
Galbraith, Kristyn; Vasudevaraja, Varshini; Serrano, Jonathan; Shen, Guomiao; Tran, Ivy; Abdallat, Nancy; Wen, Mandisa; Patel, Seema; Movahed-Ezazi, Misha; Faustin, Arline; Spino-Keeton, Marissa; Roberts, Leah Geiser; Maloku, Ekrem; Drexler, Steven A; Liechty, Benjamin L; Pisapia, David; Krasnozhen-Ratush, Olga; Rosenblum, Marc; Shroff, Seema; Boué, Daniel R; Davidson, Christian; Mao, Qinwen; Suchi, Mariko; North, Paula; Hopp, Amanda; Segura, Annette; Jarzembowski, Jason A; Parsons, Lauren; Johnson, Mahlon D; Mobley, Bret; Samore, Wesley; McGuone, Declan; Gopal, Pallavi P; Canoll, Peter D; Horbinski, Craig; Fullmer, Joseph M; Farooqui, Midhat S; Gokden, Murat; Wadhwani, Nitin R; Richardson, Timothy E; Umphlett, Melissa; Tsankova, Nadejda M; DeWitt, John C; Sen, Chandra; Placantonakis, Dimitris G; Pacione, Donato; Wisoff, Jeffrey H; Teresa Hidalgo, Eveline; Harter, David; William, Christopher M.
Afiliação
  • Galbraith K; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Vasudevaraja V; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Serrano J; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Shen G; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Tran I; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Abdallat N; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Wen M; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Patel S; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Movahed-Ezazi M; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Faustin A; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Spino-Keeton M; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Roberts LG; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Maloku E; Department of Pathology, NYU Langone Health, New York, Department of Pathology, NYU Langone, New York, USA.
  • Drexler SA; Department of Pathology and Laboratory Medicine, NYU, Mineola, New York, USA.
  • Liechty BL; Current affiliations: Department of Pathology, Mount Sinai South Nassau Hospital, Oceanside, New York, USA.
  • Pisapia D; Department of Pathology and Laboratory Medicine, Weill Cornell Medical College - New York Presbyterian Hospital, New York, New York, USA.
  • Krasnozhen-Ratush O; Department of Pathology and Laboratory Medicine, Weill Cornell Medical College - New York Presbyterian Hospital, New York, New York, USA.
  • Rosenblum M; Department of Pathology and Laboratory Medicine, Baystate Health, Springfield, Massachusetts, USA.
  • Shroff S; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
  • Boué DR; Department of Pathology and Laboratory Medicine, AdventHealth Orlando, Orlando, Florida, USA.
  • Davidson C; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, and the Ohio State University, Columbus, Ohio, USA.
  • Mao Q; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.
  • Suchi M; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.
  • North P; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
  • Hopp A; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
  • Jarzembowski JA; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
  • Parsons L; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
  • Johnson MD; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
  • Mobley B; Department of Pathology, University of Rochester School of Medicine, New York, USA.
  • Samore W; Department of Pathology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
  • McGuone D; Department of Pathology, Advocate Aurora Health, Chicago, Illinois, USA.
  • Gopal PP; Department of Pathology, Yale University School of Medicine, Connecticut, USA.
  • Canoll PD; Department of Pathology, Yale University School of Medicine, Connecticut, USA.
  • Horbinski C; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, USA.
  • Fullmer JM; Departments of Pathology and Neurosurgery, Feinberg School of Medicine, Northwestern University, Illinois, USA.
  • Farooqui MS; Department of Pathology, Beaumont Hospital, Royal Oak, Michigan, USA.
  • Gokden M; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri, USA.
  • Wadhwani NR; Department of Pathology, University of Arkansas and Arkansas Children's Hospital, Little Rock, Arkansas, USA.
  • Richardson TE; Department of Pathology and Laboratory Medicine, Ann and Robert H. Lurie Children's Hospital of Chicago, Illinois, USA.
  • Umphlett M; Department of Pathology and Laboratory Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Tsankova NM; Department of Pathology and Laboratory Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • DeWitt JC; Department of Pathology and Laboratory Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Sen C; Department of Pathology, University of Vermont Medical Center.
  • Placantonakis DG; Department of Neurosurgery, NYU Langone, New York, New York, USA.
  • Pacione D; Department of Neurosurgery, NYU Langone, New York, New York, USA.
  • Wisoff JH; Department of Neurosurgery, NYU Langone, New York, New York, USA.
  • Teresa Hidalgo E; Department of Neurosurgery, NYU Langone, New York, New York, USA.
  • Harter D; Department of Neurosurgery, NYU Langone, New York, New York, USA.
  • William CM; Department of Neurosurgery, NYU Langone, New York, New York, USA.
Neurooncol Adv ; 5(1): vdad076, 2023.
Article em En | MEDLINE | ID: mdl-37476329
ABSTRACT

Background:

Central nervous system (CNS) cancer is the 10th leading cause of cancer-associated deaths for adults, but the leading cause in pediatric patients and young adults. The variety and complexity of histologic subtypes can lead to diagnostic errors. DNA methylation is an epigenetic modification that provides a tumor type-specific signature that can be used for diagnosis.

Methods:

We performed a prospective study using DNA methylation analysis as a primary diagnostic method for 1921 brain tumors. All tumors received a pathology diagnosis and profiling by whole genome DNA methylation, followed by next-generation DNA and RNA sequencing. Results were stratified by concordance between DNA methylation and histopathology, establishing diagnostic utility.

Results:

Of the 1602 cases with a World Health Organization histologic diagnosis, DNA methylation identified a diagnostic mismatch in 225 cases (14%), 78 cases (5%) did not classify with any class, and in an additional 110 (7%) cases DNA methylation confirmed the diagnosis and provided prognostic information. Of 319 cases carrying 195 different descriptive histologic diagnoses, DNA methylation provided a definitive diagnosis in 273 (86%) cases, separated them into 55 methylation classes, and changed the grading in 58 (18%) cases.

Conclusions:

DNA methylation analysis is a robust method to diagnose primary CNS tumors, improving diagnostic accuracy, decreasing diagnostic errors and inconclusive diagnoses, and providing prognostic subclassification. This study provides a framework for inclusion of DNA methylation profiling as a primary molecular diagnostic test into professional guidelines for CNS tumors. The benefits include increased diagnostic accuracy, improved patient management, and refinements in clinical trial design.
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2023 Tipo de documento: Article