Cancer of Unknown Primary: Molecular Tissue-of-Origin Tests and NGS Enter the Diagnostic Workup
This BMJ review evaluated how molecular tissue-of-origin tests and next-generation sequencing are transforming the diagnostic approach to cancers of unknown primary, which represent 2-5% of all cancers. The authors assessed the evidence for and against incorporating molecular profiling to identify the likely primary site and actionable genomic alterations, enabling personalised therapy beyond empiric chemotherapy.
The original study
Cancer of unknown primary.
- Authors
- Lee MS, Sanoff HK
- Journal
- BMJ (Clinical research ed.)
- Type
- Journal Article, Review
- PMID
- 33288500
Original abstract
Cancers of unknown primary (CUPs) are histologically confirmed, metastatic malignancies with a primary tumor site that is unidentifiable on the basis of standard evaluation and imaging studies. CUP comprises 2-5% of all diagnosed cancers worldwide and is characterized by early and aggressive metastasis. Current standard evaluation of CUP requires histopathologic evaluation and identification of favorable risk subtypes that can be more definitively treated or have superior outcomes. Current standard treatment of the unfavorable risk subtype requires assessment of prognosis and consideration of empiric chemotherapy. The use of molecular tissue of origin tests to identify the likely primary tumor site has been extensively studied, and here we review the rationale and the evidence for and against the use of such tests in the assessment of CUPs. The expanding use of next generation sequencing in advanced cancers offers the potential to identify a subgroup of patients who have actionable genomic aberrations and may allow for further personalization of therapy.