Purpose: Hereditary pheochromocytomas and paragangliomas can be associated with mutations in the mitochondrial enzyme succinate dehydrogenase. Due to their heterogenous clinical presentation, no clear universal screening guidelines are currently available. We sought to examine the utility of metabolic testing and imaging in diagnosing hereditary pheochromocytomas and paragangliomas.
View Article and Find Full Text PDFBackground: Cell-free DNA (cfDNA) sequence analysis to screen for fetal aneuploidy can incidentally detect maternal cancer. Additional data are needed to identify DNA-sequencing patterns and other biomarkers that can identify pregnant persons who are most likely to have cancer and to determine the best approach for follow-up.
Methods: In this ongoing study we performed cancer screening in pregnant or postpartum persons who did not perceive signs or symptoms of cancer but received unusual clinical cfDNA-sequencing results or results that were nonreportable (i.