Deciphering the origin and therapeutic targets of cancer of unknown primary: a case report that illustrates the power of integrative whole-exome and transcriptome sequencing analysis.

TitleDeciphering the origin and therapeutic targets of cancer of unknown primary: a case report that illustrates the power of integrative whole-exome and transcriptome sequencing analysis.
Publication TypeJournal Article
Year of Publication2023
AuthorsAssaad MAl, Shin N, Sigouros M, Manohar J, Antysheva Z, Kotlov N, Kiriy D, Nikitina A, Kleimenov M, Tsareva A, Makarova A, Fomchenkova V, Dubinina J, Boyko A, Almog N, Wilkes D, Escalon JG, Saxena A, Elemento O, Sternberg CN, Nanus DM, Mosquera JMiguel
JournalFront Oncol
Volume13
Pagination1274163
Date Published2023
ISSN2234-943X
Abstract

Cancer of unknown primary (CUP) represents a significant diagnostic and therapeutic challenge, being the third to fourth leading cause of cancer death, despite advances in diagnostic tools. This article presents a successful approach using a novel genomic analysis in the evaluation and treatment of a CUP patient, leveraging whole-exome sequencing (WES) and RNA sequencing (RNA-seq). The patient, with a history of multiple primary tumors including urothelial cancer, exhibited a history of rapid progression on empirical chemotherapy. The application of our approach identified a molecular target, characterized the tumor expression profile and the tumor microenvironment, and analyzed the origin of the tumor, leading to a tailored treatment. This resulted in a substantial radiological response across all metastatic sites and the predicted primary site of the tumor. We argue that a comprehensive genomic and molecular profiling approach, like the BostonGene© Tumor Portrait, can provide a more definitive, personalized treatment strategy, overcoming the limitations of current predictive assays. This approach offers a potential solution to an unmet clinical need for a standardized approach in identifying the tumor origin for the effective management of CUP.

DOI10.3389/fonc.2023.1274163
Alternate JournalFront Oncol
PubMed ID38318324
PubMed Central IDPMC10838960

Weill Cornell Medicine
Department of Radiology
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