Germline Cancer Testing in Unselected Patients With Neuroendocrine Neoplasms: A Prospective Multicenter Study

Prospective germline testing in unselected NEN population, frequency and type of pathogenic variants (MEN1, VHL, SDHx, RET, MUTYH)

This prospective multicenter study evaluates the prevalence and clinical implications of pathogenic germline variants (PGVs) in unselected NEN patients. A significant frequency of PGVs is identified in established predisposition genes (MEN1, VHL, SDHx, RET, MUTYH). Germline variants are associated with specific clinical and histological features (tumor site, differentiation), and their detection modified management in a notable proportion of cases. The study argues for systematic germline screening in NEN regardless of personal or family criteria.

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Hereditary NEN remains underscreened in practice due to a lack of clear recommendations and underappreciation of the genetic component. This prospective study provides robust prevalence data that should lead to incorporating germline testing in the initial workup of all NEN patients, parallel to what is done for gynecological or colorectal cancers.

Clinical impact: 3/3 · Evidence strength: 3/3 · Novelty: 2/2 · Sample size: 1/1 · Publication status: 0/1 → Total: 9/10