Rapid tumor DNA analysis of cerebrospinal fluid accelerates treatment of central nervous system lymphoma.

Autor:	Gupta M; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA.; Department of Neurosurgery, University of California San Diego, La Jolla, CA., Bradley JD; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA., Massaad E; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA., Burns EJ; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA., Georgantas NZ; Department of Pathology, 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 Neurosurgery, Massachusetts General Hospital, Boston, MA., Thierauf J; Department of Pathology, Massachusetts General Hospital, Boston, MA.; Department of Otorhinolaryngology, Head and Neck Surgery, Experimental Head and Neck Oncology, Heidelberg University Hospital, Heidelberg, Germany., Nayyar N; Cancer Center, Massachusetts General Hospital, Boston, MA., Gordon A; Division of Neuro-Oncology, Department of Neurology, Massachusetts General Hospital Cancer Center, Boston, MA., Jones SS; Division of Neuro-Oncology, Department of Neurology, Massachusetts General Hospital Cancer Center, 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; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA., Barker FG 2nd; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA., Curry WT; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA., Gupta R; Department of Neuroradiology, Massachusetts General Hospital, Boston, MA., Romero JM; Department of Neuroradiology, Massachusetts General Hospital, Boston, MA., Wang N; Department of Medicine, Massachusetts General Hospital, Boston, MA., Brastianos PK; Cancer Center, Massachusetts General Hospital, Boston, MA.; Department of Neurology, Massachusetts General Hospital, Boston, MA.; Division of Hematology/Oncology, Massachusetts General Hospital, Boston, MA., Martinez-Lage M; C.S. Kubik Laboratory for Neuropathology, Massachusetts General Hospital, Boston, MA., Tateishi K; Department of Neurosurgery, Yokohama City University, Yokohama, Japan., Forst DA; Cancer Center, Massachusetts General Hospital, Boston, MA., Nahed BV; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA., Batchelor TT; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA., Ritterhouse LL; Department of Pathology, Massachusetts General Hospital, Boston, MA., Iser F; Department of Neurology and Neuro-Oncology Program, National Center for Tumor Diseases, Heidelberg University Hospital, Heidelberg, Germany., Kessler T; Department of Neurology and Neuro-Oncology Program, National Center for Tumor Diseases, Heidelberg University Hospital, Heidelberg, Germany., Jordan JT; Division of Neuro-Oncology, Department of Neurology, Massachusetts General Hospital Cancer Center, Boston, MA., Dietrich J; Cancer Center, Massachusetts General Hospital, Boston, MA.; Division of Neuro-Oncology, Department of Neurology, Massachusetts General Hospital Cancer Center, Boston, MA., Meyerson M; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA., Cahill DP; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA., Lennerz JK; Department of Pathology, Massachusetts General Hospital, Boston, MA., Carter BS; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA., Shankar GM; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA.
Jazyk:	angličtina
Zdroj:	Blood [Blood] 2024 Sep 05; Vol. 144 (10), pp. 1093-1100.
DOI:	10.1182/blood.2024023832
Abstrakt:	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. (© 2024 American Society of Hematology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.)
Databáze:	MEDLINE
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