A recent study highlighted the case of 74-year-old man with rectal pain and anal melanoma who underwent a PET/CT scan, showing no metastasis. Post-resection, molecular testing, including droplet digital PCR (ddPCR) for BRAF V600E/K, found a discrepancy between the high tumor cell percentage (>90%) and a low mutant to wild-type copy number ratio (0.3%). This case underscores the importance of correlating histologic, molecular, and clinical data; highlights ddPCR’s sensitivity in detecting targetable alterations as crucial for personalized treatment; and stresses the accurate identification and quantification of pathogenic variants as key in laboratory analysis.

Reference: Buglioni A, Guo R, Rumilla KM, Edgar MA, Markovic SN, Zheng G. An Unexpected Diagnosis Uncovered by Quantitative Molecular Findings: A Case Report. J Natl Compr Canc Netw. 2023;21(8):787-791. doi:10.6004/jnccn.2023.7014