학술논문
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
Document Type
article
Author
Majd Al Assaad; Nara Shin; Michael Sigouros; Jyothi Manohar; Zoia Antysheva; Nikita Kotlov; Daria Kiriy; Anastasiia Nikitina; Mikhail Kleimenov; Anastasiya Tsareva; Anastasiya Makarova; Victoria Fomchenkova; Julia Dubinina; Alexandra Boyko; Nava Almog; David Wilkes; Joanna G. Escalon; Ashish Saxena; Olivier Elemento; Cora N. Sternberg; David M. Nanus; Juan Miguel Mosquera
Source
Frontiers in Oncology, Vol 13 (2024)
Subject
Language
English
ISSN
2234-943X
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.