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dc.creatorHemenway, Gregory
dc.creatorTierno, Marni B.
dc.creatorNejati, Reza
dc.creatorSosa, Romina
dc.creatorZibelman, Matthew
dc.date.accessioned2023-12-21T19:36:53Z
dc.date.available2023-12-21T19:36:53Z
dc.date.issued2022-02-07
dc.identifier.citationGregory Hemenway, Marni B. Tierno, Reza Nejati, Romina Sosa, Matthew Zibelman; Clinical Utility of Liquid Biopsy to Identify Genomic Heterogeneity and Secondary Cancer Diagnoses: A Case Report. Case Rep Oncol 2 May 2022; 15 (1): 78–85. https://doi.org/10.1159/000521841
dc.identifier.issn1662-6575
dc.identifier.urihttp://hdl.handle.net/20.500.12613/9347
dc.description.abstractLiquid biopsy is a valuable tool in advanced and metastatic cancers for detection of genomic alterations in tumors that facilitate personalized targeted therapy approaches. Analyzing circulating tumor DNA (ctDNA) using next-generation sequencing (NGS) provides an opportunity to detect tumor genomic changes during therapy and capture inter- and intra-heterogeneity of genomically divergent cancer cell evolution. Herein, we present a patient with metastatic castration-resistant prostate cancer, with progression to soft tissues, bone, and regional lymph nodes, who was treated with abiraterone plus prednisone, with excellent prostate-specific antigen response. At the time of progression, NGS analysis of ctDNA using the FoundationOne®Liquid test revealed a CHEK2 mutation and a BRAF V600E mutation, the latter being exceedingly rare in prostate cancer. At the time of biochemical recurrence, the patient was referred to hematology for evaluation of chronic but stable thrombocytopenia prior to initiating new systemic therapy. Results of a bone marrow biopsy were consistent with hairy-cell leukemia, where the BRAF V600E mutation is considered the disease-defining mutation detectable in nearly all cases at diagnosis. In this case, liquid biopsy served as a noninvasive, highly sensitive approach to help reveal tumor genomic heterogeneity but also identified an unexpected genomic alteration leading to secondary cancer diagnosis and changes to treatment-related decision-making.
dc.format.extent8 pages
dc.languageEnglish
dc.language.isoeng
dc.relation.ispartofFaculty/ Researcher Works
dc.relation.haspartCase Reports in Oncology, Vol. 15, Iss. 1
dc.relation.isreferencedbyKarger Publishers
dc.rightsAttribution-NonCommercial CC BY-NC
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/deed.en
dc.subjectCirculating tumor DNA
dc.subjectLiquid biopsy
dc.subjectComprehensive genomic profiling
dc.subjectCHEK2
dc.titleClinical Utility of Liquid Biopsy to Identify Genomic Heterogeneity and Secondary Cancer Diagnoses: A Case Report
dc.typeText
dc.type.genreJournal article
dc.contributor.groupFox Chase Cancer Center (Temple University)
dc.description.departmentMedicine
dc.relation.doihttp://dx.doi.org/10.1159/000521841
dc.ada.noteFor Americans with Disabilities Act (ADA) accommodation, including help with reading this content, please contact scholarshare@temple.edu
dc.description.schoolcollegeLewis Katz School of Medicine
dc.creator.orcidZibelman|0000-0003-1475-6477
dc.temple.creatorHemenway, Gregory
dc.temple.creatorNejati, Reza
dc.temple.creatorSosa, Romina
dc.temple.creatorZibelman, Matthew
refterms.dateFOA2023-12-21T19:36:53Z


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