Using NGS for diagnostic or treatment purposes in carcinoma of unknown primary site is not supported by the literature and remains E/I. Some studies suggest that it may have utility and others studies have not. Guideliens so far are not supporting this approach.

Hayashi H, Takiguchi Y, Minami H, et al. Site-Specific and Targeted Therapy Based on Molecular Profiling by Next-Generation Sequencing for Cancer of Unknown Primary Site: A Nonrandomized Phase 2 Clinical Trial. JAMA Oncol. 2020;6(12):1931–1938.

Luca Boscolo Bielo, Carmen Belli, Edoardo Crimini, Matteo Repetto, Liliana Ascione, Gloria Pellizzari, Celeste Santoro, Valeria Fuorivia, Massimo Barberis, Nicola Fusco, Elena Guerini Rocco, Giuseppe Curigliano, Cancers of Unknown Primary Origin: Real-World Clinical Outcomes and Genomic Analysis at the European Institute of Oncology, The Oncologist, Volume 29, Issue 6, June 2024, Pages 504–510
NCCN Occult Primary 2024

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