Metastatic pheochromocytoma and paraganglioma: Integrating tumor biology in clinical practice.

Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors derived from chromaffin cells in the autonomic nervous system. Depending on their location, these tumors are capable of excessive catecholamine production, which may lead to uncontrolled hypertension and other life-threatening complications. They are associated with a significant risk of metastatic disease and are often caused by an inherited germline mutation.

secondary findings in germline testing: counseling and surveillance considerations.

This commentary explores the complexities faced by clinicians when encountering a secondary pathogenic variant (PV) in patients without a personal or family history of -related tumors. The increasing use of germline multi-gene panel testing has led to a rise in such secondary findings, necessitating a nuanced approach to counseling, surveillance, and decision-making. We aim to discuss the current data surrounding the penetrance of PVs, the spectrum of screening guidelines, recommendations for educating individuals and families about their secondary findings, and the need for future research to optimize care for these individuals.

Succinate Dehydrogenase Mutations as Familial Pheochromocytoma Syndromes.

It is recognized that a large portion of pheochromocytoma and paraganglioma cases will have an underlying germline mutation, supporting the recommendation for universal genetic testing in all patients with PPGLs. A mutation in succinate dehydrogenase subunit B is associated with increased rates of developing synchronous and/or metachronous metastatic disease. Patients identified with this mutation require meticulous preoperative evaluation, a personalized surgical plan to minimize the risk of recurrence and tumor spread, and lifelong surveillance.

Impact of Genetic Counseling on Patient-Reported Electronic Cancer Family History Collection.

Background: Cancer family history is a vital part of cancer genetic counseling (GC) and genetic testing (GT), but increasing indications for germline cancer GT necessitate less labor-intensive models of collection. We evaluated the impact of GC on patient pedigrees generated by an electronic cancer family history questionnaire (eCFHQ).

Methods: An Institutional Review Board-approved review of pedigrees collected through an eCFHQ was conducted.