Journal article
BIOM-04. SENSITIVE DETECTION OF LEPTOMENINGEAL DISEASE USING CELL-FREE DNA FROM CEREBROSPINAL FLUID
Neuro-oncology (Charlottesville, Va.), v 23(Supplement_6), pp vi10-vi10
12 Nov 2021
Abstract
Abstract
Leptomeningeal disease is a devastating complication of cancer that is frequently underdiagnosed due to the low sensitivity of cerebrospinal fluid cytology, the current gold-standard diagnostic method. We performed genomic sequencing on cerebrospinal fluid specimens obtained from patients with suspected or confirmed leptomeningeal disease to identify tumor-derived cell-free DNA. From the same fluid draw, cerebrospinal fluid cytology was assayed for comparison. 30 patients underwent cytology and cell-free DNA analysis. This study consisted of two patient populations: 22 patients with cytology-confirmed leptomeningeal disease without parenchymal tumors abutting their cerebrospinal fluid and 8 patients with parenchymal brain metastases with no evidence of leptomeningeal disease. The primary outcome was the diagnostic accuracy of cell-free DNA, defined as the number of correct diagnoses out of the total number of tests assayed. A total of 30 patients, 23 female and 7 male, with a median age of 51 participated in this study. Participants mostly presented with metastatic solid malignancies. In patients previously diagnosed with leptomeningeal disease via cytology with no parenchymal tumor abutting cerebrospinal fluid, cell-free DNA was accurate in diagnosis of leptomeningeal disease in 45 of 48 follow-up samples (94%; 95% CI, 83%-99%). Cytology was accurate in 36 of 48 follow-up samples (75%; 95% CI, 60%-86%). Cell-free DNA was significantly more accurate (P=.02) and sensitive (P=.02) than cytology in patients without parenchymal tumors abutting the cerebrospinal fluid. In three patients with parenchymal brain metastases abutting the cerebrospinal fluid and no suspicion for leptomeningeal disease, cytology was negative in all three patients; whereas, cell-free DNA was positive in all three. This study demonstrates the improved sensitivity and accuracy of cell-free DNA in diagnosing leptomeningeal disease with the exception of parenchymal tumors abutting cerebrospinal fluid. Overall, these results will lead to improved diagnosis of leptomeningeal disease and potentially earlier intervention and clinical trial enrollment.
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Details
- Title
- BIOM-04. SENSITIVE DETECTION OF LEPTOMENINGEAL DISEASE USING CELL-FREE DNA FROM CEREBROSPINAL FLUID
- Creators
- Michael White - University of RochesterRobert Klein - Broad InstituteBrian Shaw - Drexel UniversityAlbert Kim - Massachusetts General HospitalMegha Subramanian - Massachusetts General HospitalJoana Mora - Massachusetts General HospitalAnita Giobbie-Hurder - Dana-Farber Cancer InstituteDeepika Nagabhushan - Boston UniversityAarushi Jain - Boston UniversityMohini Singh - Massachusetts General HospitalBenjamin Kuter - Massachusetts General HospitalNaema Nayyar - University of Massachusetts BostonJackson Stocking - University of Colorado DenverSamuel Markson - Broad InstituteMatthew Lastrapes - Broad InstituteChristopher Alvarez-Breckenridge - The University of Texas MD Anderson Cancer CenterDaniel Cahill - Massachusetts General HospitalMaura Mahar - Massachusetts General HospitalJustin Rhoades - Broad InstituteDenisse Rotam - Massachusetts General HospitalMia Bertalan - Dartmouth CollegeGreg Gydush - Broad InstituteViktor Adalsteinsson - Broad InstituteAlexander Kaplan - University of Massachusetts Medical SchoolKevin Oh - Massachusetts General HospitalRyan Sullivan - Massachusetts General HospitalElizabeth Gerstner - Massachusetts General HospitalScott Carter - The University of Texas MD Anderson Cancer CenterPriscilla Brastianos - Massachusetts General Hospital
- Publication Details
- Neuro-oncology (Charlottesville, Va.), v 23(Supplement_6), pp vi10-vi10
- Publisher
- Oxford University Press
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pharmacology and Physiology
- Other Identifier
- 991019170329504721