Detection of tumor-derived DNA in cerebrospinal fluid of patients with primary tumors of the brain and spinal cord

Proceedings of the National Academy of Sciences of the United States of America

Volumn 112, Issue 31, 2015, Pages 9704-9709

  Wang, Yuxuan ^a   Springer, Simeon ^a   Zhang, Ming ^a   McMahon, K Wyatt ^a   Kinde, Isaac ^a   Dobbyn, Lisa ^a   Ptak, Janine ^a   Brem, Henry ^b   Chaichana, Kaisorn ^b   Gallia, Gary L ^b   Gokaslan, Ziya L ^b   Groves, Mari L ^b   Jallo, George I ^b   Lim, Michael ^b   Olivi, Alessandro ^b   Quinones Hinojosa, Alfredo ^b   Rigamonti, Daniele ^b   Riggins, Greg J ^b   Sciubba, Daniel M ^b   Weingart, Jon D ^b   Wolinsky, Jean Paul ^b   Ye, Xiaobu ^b   Oba Shinjo, Sueli Mieko ^c   Marie, Suely K N ^c   Holdhoff, Matthias ^b   Agrawal, Nishant ^a,b   Diaz, Luis A ^a   Papadopoulos, Nickolas ^a   Kinzler, Kenneth W ^a   Vogelstein, Bert ^a   Bettegowda, Chetan ^a,b   more..

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Biomarker; CNS tumors; CSF tDNA

Indexed keywords

BIOLOGICAL MARKER; DNA;

ARTICLE; BRAIN TUMOR; CEREBROSPINAL FLUID ANALYSIS; CONTROLLED STUDY; DNA DETERMINATION; EPENDYMOMA; GENE MUTATION; GENE SEQUENCE; GLIOMA; HUMAN; HUMAN TISSUE; MEDULLOBLASTOMA; PRIMARY TUMOR; PRIORITY JOURNAL; SPINAL CORD TUMOR; ADOLESCENT; ADULT; AGED; CEREBROSPINAL FLUID; CHILD; DEMOGRAPHY; DNA MUTATIONAL ANALYSIS; EXON; FEMALE; GENETICS; HUMAN GENOME; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; VERY ELDERLY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BRAIN NEOPLASMS; CHILD; CHILD, PRESCHOOL; DEMOGRAPHY; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; EXONS; FEMALE; GENOME, HUMAN; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION; SPINAL CORD NEOPLASMS;

EID: 84938632046     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1511694112     Document Type: Article

References (52)

1. Ostrom QT, et al. (2013) CBTRUS statistical report: Primary brain and central nervous system tumors diagnosed in the United States in 2006-2010. Neuro-oncol 15(Suppl 2): ii1-ii56.
2. Kros JM, et al. (2014) Circulating glioma biomarkers. Neuro-oncol, pii:nou207.
3. Van Mieghem E, et al. (2013) Defining pseudoprogression in glioblastoma multiforme. Eur J Neurol 20(10):1335-1341.
4. Müller C, et al. (2014) Hematogenous dissemination of glioblastoma multiforme. Sci Transl Med 6(247):247ra101.
5. Macarthur KM, et al. (2014) Detection of brain tumor cells in the peripheral blood by a telomerase promoter-based assay. Cancer Res 74(8):2152-2159.
6. Sullivan JP, et al. (2014) Brain tumor cells in circulation are enriched for mesenchymal gene expression. Cancer Discov 4(11):1299-1309.
7. Diehl F, et al. (2008) Circulating mutant DNA to assess tumor dynamics. Nat Med 14(9): 985-990.
8. Bettegowda C, et al. (2014) Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med 6(224):224ra24.
9. Dawson SJ, et al. (2013) Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med 368(13):1199-1209.
10. Newman AM, et al. (2014) An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med 20(5):548-554.
11. Martignetti JA, et al. (2014) Personalized ovarian cancer disease surveillance and detection of candidate therapeutic drug target in circulating tumor DNA. Neoplasia 16(1):97-103.
12. Sidransky D, et al. (1992) Identification of ras oncogene mutations in the stool of patients with curable colorectal tumors. Science 256(5053):102-105.
13. Sidransky D, et al. (1991) Identification of p53 gene mutations in bladder cancers and urine samples. Science 252(5006):706-709.
14. Ralla B, et al. (2014) Nucleic acid-based biomarkers in body fluids of patients with urologic malignancies. Crit Rev Clin Lab Sci 51(4):200-231.
15. Hubers AJ, Prinsen CF, Sozzi G, Witte BI, Thunnissen E (2013) Molecular sputum analysis for the diagnosis of lung cancer. Br J Cancer 109(3):530-537.
16. Diehl F, et al. (2008) Analysis of mutations in DNA isolated from plasma and stool of colorectal cancer patients. Gastroenterology 135(2):489-498.
17. Kinde I, et al. (2013) Evaluation of DNA from the Papanicolaou test to detect ovarian and endometrial cancers. Sci Transl Med 5(167):167ra4.
18. Vogelstein B, et al. (2013) Cancer genome landscapes. Science 339(6127):1546-1558.
19. Kinde I, Wu J, Papadopoulos N, Kinzler KW, Vogelstein B (2011) Detection and quantification of rare mutations with massively parallel sequencing. Proc Natl Acad Sci USA 108(23):9530-9535.
20. Woodworth GF, et al. (2013) Histopathological correlates with survival in reoperated glioblastomas. J Neurooncol 113(3):485-493.
21. Krueger DA, et al. (2010) Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med 363(19):1801-1811.
22. Pan W, Gu W, Nagpal S, Gephart MH, Quake SR (2015) Brain tumor mutations detected in cerebral spinal fluid. Clin Chem 61(3):514-522.
23. von Hoff K, Rutkowski S (2012) Medulloblastoma. Curr Treat Options Neurol 14(4):416-426.
24. Bartlett F, Kortmann R, Saran F (2013) Medulloblastoma. Clin Oncol (R Coll Radiol) 25(1):36-45.
25. Glass JP, Melamed M, Chernik NL, Posner JB (1979) Malignant cells in cerebrospinal fluid (CSF): The meaning of a positive CSF cytology. Neurology 29(10):1369-1375.
26. Preusser M, Hainfellner JA (2012) CSF and laboratory analysis (tumor markers). Handb Clin Neurol 104:143-148.
27. Allory Y, et al. (2014) Telomerase reverse transcriptase promoter mutations in bladder cancer: High frequency across stages, detection in urine, and lack of association with outcome. Eur Urol 65(2):360-366.
28. Destro A, et al. (2004) K-ras and p16(INK4A)alterations in sputum of NSCLC patients and in heavy asymptomatic chronic smokers. Lung Cancer 44(1):23-32.
29. Mack SC, et al. (2014) Epigenomic alterations define lethal CIMP-positive ependymomas of infancy. Nature 506(7489):445-450.
30. Gajjar A, Pfister SM, Taylor MD, Gilbertson RJ (2014) Molecular insights into pediatric brain tumors have the potential to transform therapy. Clin Cancer Res 20(22):5630-5640.
31. Rudin CM, et al. (2009) Treatment of medulloblastoma with hedgehog pathway inhibitor GDC-0449. N Engl J Med 361(12):1173-1178.
32. Thompson MC, et al. (2006) Genomics identifies medulloblastoma subgroups that are enriched for specific genetic alterations. J Clin Oncol 24(12):1924-1931.
33. Moreno L, et al. (2010) Utility of cerebrospinal fluid cytology in newly diagnosed childhood ependymoma. J Pediatr Hematol Oncol 32(6):515-518.
34. Weston CL, Glantz MJ, Connor JR (2011) Detection of cancer cells in the cerebrospinal fluid: Current methods and future directions. Fluids Barriers CNS 8(1):14.
35. Khwaja FW, et al. (2007) Proteomic identification of biomarkers in the cerebrospinal fluid (CSF) of astrocytoma patients. J Proteome Res 6(2):559-570.
36. Roy S, et al. (2008) Protein biomarker identification in the CSF of patients with CNS lymphoma. J Clin Oncol 26(1):96-105.
37. Bougel S, et al. (2013) Methylation of the hTERT promoter: A novel cancer biomarker for leptomeningeal metastasis detection in cerebrospinal fluids. Clin Cancer Res 19(8):2216-2223.
38. Samuel N, Remke M, Rutka JT, Raught B, Malkin D (2014) Proteomic analyses of CSF aimed at biomarker development for pediatric brain tumors. J Neurooncol 118(2):225-238.
39. Chamberlain MC, Kormanik PA, Glantz MJ (2001) A comparison between ventricular and lumbar cerebrospinal fluid cytology in adult patients with leptomeningeal metastases. Neuro-oncol 3(1):42-45.
40. Gajjar A, et al. (1999) Comparison of lumbar and shunt cerebrospinal fluid specimens for cytologic detection of leptomeningeal disease in pediatric patients with brain tumors. J Clin Oncol 17(6):1825-1828.
41. Thomas L, Di Stefano AL, Ducray F (2013) Predictive biomarkers in adult gliomas: The present and the future. Curr Opin Oncol 25(6):689-694.
42. Olar A, Aldape KD (2014) Using the molecular classification of glioblastoma to inform personalized treatment. J Pathol 232(2):165-177.
43. Gajjar AJ, Robinson GW (2014) Medulloblastoma-translating discoveries from the bench to the bedside. Nat Rev Clin Oncol 11(12):714-722.
44. Horn S, et al. (2013) TERT promoter mutations in familial and sporadic melanoma. Science 339(6122):959-961.
45. Huang FW, et al. (2013) Highly recurrent TERT promoter mutations in human melanoma. Science 339(6122):957-959.
46. Killela PJ, et al. (2013) TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proc Natl Acad Sci USA 110(15):6021-6026.
47. Bettegowda C, et al. (2013) Exomic sequencing of four rare central nervous system tumor types. Oncotarget 4(4):572-583.
48. Kinde I, et al. (2013) TERT promoter mutations occur early in urothelial neoplasia and are biomarkers of early disease and disease recurrence in urine. Cancer Res 73(24): 7162-7167.
49. Zhang M, et al. (2014) Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors. Nat Genet 46(11):1170-1172.
50. Agrawal N, et al. (2011) Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science 333(6046):1154-1157.
51. Agrawal N, et al. (2012) Comparative genomic analysis of esophageal adenocarcinoma and squamous cell carcinoma. Cancer Discov 2(10):899-905.
52. Bettegowda C, et al. (2011) Mutations in CIC and FUBP1 contribute to human oligodendroglioma. Science 333(6048):1453-1455.