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Rapid tumor DNA analysis of cerebrospinal fluid accelerates treatment of central nervous system lymphoma.
Gupta, Mihir; Bradley, Joseph D; Massaad, Elie; Burns, Evan J; Georgantas, N Zeke; Maron, Garrett E; Batten, Julie M; Gallagher, Aidan; Thierauf, Julia; Nayyar, Naema; Gordon, Amanda; Jones, SooAe S; Pisapia, Michelle; Sun, Ying; Jones, Pamela S; Barker, Fred G; Curry, William T; Gupta, Rajiv; Romero, Javier M; Wang, Nancy; Brastianos, Priscilla K; Martinez-Lage, Maria; Tateishi, Kensuke; Forst, Deborah A; Nahed, Brian V; Batchelor, Tracy T; Ritterhouse, Lauren L; Iser, Florian; Kessler, Tobias; Jordan, Justin T; Dietrich, Jorg; Meyerson, Matthew; Cahill, Daniel P; Lennerz, Jochen K; Carter, Bob S; Shankar, Ganesh M.
Afiliación
  • Gupta M; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA.
  • Bradley JD; Department of Neurosurgery, University of California San Diego, La Jolla, CA.
  • Massaad E; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA.
  • Burns EJ; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA.
  • Georgantas NZ; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA.
  • Maron GE; Department of Pathology, Massachusetts General Hospital, Boston, MA.
  • Batten JM; Department of Pathology, Massachusetts General Hospital, Boston, MA.
  • Gallagher A; Department of Pathology, Massachusetts General Hospital, Boston, MA.
  • Thierauf J; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA.
  • Nayyar N; Department of Pathology, Massachusetts General Hospital, Boston, MA.
  • Gordon A; Department of Otorhinolaryngology, Head and Neck Surgery, Experimental Head and Neck Oncology, Heidelberg University Hospital, Heidelberg, Germany.
  • Jones SS; Cancer Center, Massachusetts General Hospital, Boston, MA.
  • Pisapia M; Division of Neuro-Oncology, Department of Neurology, Massachusetts General Hospital Cancer Center, Boston, MA.
  • Sun Y; Division of Neuro-Oncology, Department of Neurology, Massachusetts General Hospital Cancer Center, Boston, MA.
  • Jones PS; Division of Neuro-Oncology, Department of Neurology, Massachusetts General Hospital Cancer Center, Boston, MA.
  • Barker FG; Division of Neuro-Oncology, Department of Neurology, Massachusetts General Hospital Cancer Center, Boston, MA.
  • Curry WT; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA.
  • Gupta R; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA.
  • Romero JM; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA.
  • Wang N; Department of Neuroradiology, Massachusetts General Hospital, Boston, MA.
  • Brastianos PK; Department of Neuroradiology, Massachusetts General Hospital, Boston, MA.
  • Martinez-Lage M; Department of Medicine, Massachusetts General Hospital, Boston, MA.
  • Tateishi K; Cancer Center, Massachusetts General Hospital, Boston, MA.
  • Forst DA; Department of Neurology, Massachusetts General Hospital, Boston, MA.
  • Nahed BV; Division of Hematology/Oncology, Massachusetts General Hospital, Boston, MA.
  • Batchelor TT; C.S. Kubik Laboratory for Neuropathology, Massachusetts General Hospital, Boston, MA.
  • Ritterhouse LL; Department of Neurosurgery, Yokohama City University, Yokohama, Japan.
  • Iser F; Cancer Center, Massachusetts General Hospital, Boston, MA.
  • Kessler T; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA.
  • Jordan JT; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.
  • Dietrich J; Department of Neurology, Brigham and Women's Hospital, Boston, MA.
  • Meyerson M; Department of Pathology, Massachusetts General Hospital, Boston, MA.
  • Cahill DP; Department of Neurology and Neuro-Oncology Program, National Center for Tumor Diseases, Heidelberg University Hospital, Heidelberg, Germany.
  • Lennerz JK; Department of Neurology and Neuro-Oncology Program, National Center for Tumor Diseases, Heidelberg University Hospital, Heidelberg, Germany.
  • Carter BS; Division of Neuro-Oncology, Department of Neurology, Massachusetts General Hospital Cancer Center, Boston, MA.
  • Shankar GM; Cancer Center, Massachusetts General Hospital, Boston, MA.
Blood ; 144(10): 1093-1100, 2024 09 05.
Article en En | MEDLINE | ID: mdl-38776489
ABSTRACT
ABSTRACT Delays and risks associated with neurosurgical biopsies preclude timely diagnosis and treatment of central nervous system (CNS) lymphoma and other CNS neoplasms. We prospectively integrated targeted rapid genotyping of cerebrospinal fluid (CSF) into the evaluation of 70 patients with CNS lesions of unknown cause. Participants underwent genotyping of CSF-derived DNA using a quantitative polymerase chain reaction-based approach for parallel detection of single-nucleotide variants in the MYD88, TERT promoter, IDH1, IDH2, BRAF, and H3F3A genes within 80 minutes of sample acquisition. Canonical mutations were detected in 42% of patients with neoplasms, including cases of primary and secondary CNS lymphoma, glioblastoma, IDH-mutant brainstem glioma, and H3K27M-mutant diffuse midline glioma. Genotyping results eliminated the need for surgical biopsies in 7 of 33 cases (21.2%) of newly diagnosed neoplasms, resulting in significantly accelerated initiation of disease-directed treatment (median, 3 vs 12 days; P = .027). This assay was then implemented in a Clinical Laboratory Improvement Amendments environment, with 2-day median turnaround for diagnosis of CNS lymphoma from 66 patients across 4 clinical sites. Our study prospectively demonstrates that targeted rapid CSF genotyping influences oncologic management for suspected CNS tumors.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias del Sistema Nervioso Central / Linfoma Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Blood Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias del Sistema Nervioso Central / Linfoma Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Blood Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos