Citations 2
The mutational landscape of spinal chordomas and their sensitive detection using circulating tumor DNA
Mattox, Austin K. , Yang, Beibei , Lo, Sheng-Fu Larry , Sciubba, Daniel M. , Wolinsky, Jean Paul, Gokaslan, Ziya L. , Robison, Jamie, Blair, Cheríe , Gokaslan, Ziya L , Douville, Christopher , Wolinsky, Jean‐Paul , Blair, Cherie, Jiao, Yuchen , Bettegowda, Chetan
Neuro-Oncology Advances | December 9, 2020 | Volume: 3 | Issue: 1 | Pages: No page available
Abstract Background Chordomas are the most common primary spinal column malignancy in the United States. The aim of this study was to determine whether chordomas may be detected by evaluating mutations in circulating tumor DNA (ctDNA). Methods Thirty-two patients with a biopsy-confirmed diagnosis of chordoma had blood drawn pre-operatively and/or at follow-up appointments. Mutations in the primary tumor were identified by whole exome sequencing and liquid biopsy by ddPCR and/or RACE-Seq was used to detect one or more of these mutations in plasma ctDNA at concurrent or later time points. Results At the time of initial blood draw, 87.1% of patients were ctDNA positive (P <.001). Follow-up blood draws in twenty of the patients suggest that ctDNA levels may reflect the clinical status of the disease. Patients with positive ctDNA levels were more likely to have greater mutant allele frequencies in their primary tumors (P = .004) and undergo radiotherapy (P = .02), and the presence of ctDNA may correlate with response to systemic chemotherapy and/or disease recurrence. Conclusions Detection of ctDNA mutations may allow for the detection and monitoring of disease progression for chordomas.
Detection and localization of surgically resectable cancers with a multi-analyte blood test
Cohen, Joshua D. , Li, Lu , Wang, Yuxuan , Thoburn, Christopher J. , Danilova, Ludmila , Douville, Christopher , Javed, Ammar A. , Wong, Fay , Mattox, Austin K. , Hruban, Ralph H. , Wolfgang, Christopher L. , Molin, Marco Dal , Ptak, Janine , Dobbyn, Lisa , Silliman, Natalie , Browne, J. Dale, Tie, Jeanne , Wong, Hui‐Li , Mansfield, Aaron S. , Jen, Jin , Falconi, Massimo , Allen, Peter J. , Zhou, Shibin , Díaz, Luis A. , Kinzler, Kenneth W. , Vogelstein, Bert , Lennon, Anne Marie , Papadopoulos, Nickolas , Thoburn, Christopher , Danilova, Ludmila , Douville, Christopher , Javed, Ammar A , Wong, Fay , Mattox, Austin , Wolfgang, Christopher L , Roden, Richard , Klein, Alison P , Ptak, Janine , Dobbyn, Lisa , Schaefer, Joy , Silliman, Natalie , Schoen, Robert E , Brand, Randall E , Tie, Jeanne , Wong, Hui-Li , Mansfield, Aaron S , Jen, Jin , Zhou, Shibin , Diaz, Luis A , Tomasetti, Cristian , Kinzler, Kenneth W , Vogelstein, Bert , Lennon, Anne Marie , Papadopoulos, Nickolas , Wang, Yuxuan , Afsari, Bahman , Goggins, Michael , Wang, Tian‐Li , Klein, Alison P. , Popoli, Maria , Vogelstein, Joshua T , Schoen, Robert E. , Brand, Randall E. , Gibbs, Peter , Hanash, Samir , Bettegowda, Chetan , Massimo, Falconi
Science | January 18, 2018 | Volume: 359 | Issue: 6378 | Pages: 926-930
SEEK and you may find cancer earlier Many cancers can be cured by surgery and/or systemic therapies when detected before they have metastasized. This clinical reality, coupled with the growing appreciation that cancer's rapid genetic evolution limits its response to drugs, have fueled interest in methodologies for earlier detection of the disease. Cohen et al. developed a noninvasive blood test, called CancerSEEK that can detect eight common human cancer types (see the Perspective by Kalinich and Haber). The test assesses eight circulating protein biomarkers and tumor-specific mutations in circulating DNA. In a study of 1000 patients previously diagnosed with cancer and 850 healthy control individuals, CancerSEEK detected cancer with a sensitivity of 69 to 98% (depending on cancer type) and 99% specificity. Science , this issue p. 926 ; see also p. 866