The patient remained in a satisfactory condition post-surgery. This case report describes the first documented micro-GIST with a BRAF mutation arising in a leiomyoma, highlighting the importance of molecular detection in the differential diagnosis of GISTs.
The Idylla BRAF assay delivers ultrarapid results that are both reliable and accurate with high success rates, particularly on ScfDNA samples. ScfDNA samples also have the fastest TAT because no histologic processing or pre-extraction are required for testing.
The patient exhibited poor response to bortezomib, lenalidomide, and dexamethasone therapy, necessitating a switch to carfilzomib-based treatment. This case underscores the diagnostic challenges of CD138-negative myeloma and highlights the importance of integrating morphology, immunophenotyping, and molecular profiling to inform accurate diagnosis and guide therapeutic strategies.
The PET-CT calculated total metabolic tumor volume correlated with the quantitative ctDNA result with a Pearson r factor of 0.49. In conclusion, ctDNA ddPCR BRAF testing is easily obtained and might be especially beneficial for patients diagnosed with a clinically aggressive disease, based on elevated LDH, higher PET-CT metabolic tumor volume, and younger age.