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  • Author: Elise M. Watson x
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Caitlin B. Mauer Hall C Mauer Hall, Department of Health Care Sciences, UT Southwestern School of Health Professions, Dallas, 75390-9091, United States

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Elise M. Watson E Watson, Cancer Genetics, UT Southwestern Medical Center, Dallas, United States

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Tanushree Prasad T Prasad, O'Donnell School of Public Health, UT Southwestern Medical Center, Dallas, United States

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Chandler L. Myers C Myers, Maternal-Fetal Medicine, Novant Health New Hanover Regional Medical Center, Wilmington, United States

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Jacqueline A. Mersch J Mersch, Cancer Genetics, UT Southwestern Medical Center, Dallas, United States

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Background: Approximately 30-40% of paragangliomas (PGL) and pheochromocytomas (PCC) harbor an underlying hereditary cause. Early identification of at-risk individuals is imperative given the early-onset, aggressiveness of tumors, and other tumor/cancer risks associated with hereditary PGLs/PCCs. This study analyzes the clinical presentations and genetic histories of patients with PGL/PCC and/or hereditary risk to contribute to the expanding knowledge in this rare population.

Methods: Retrospective chart review identified two cohorts of patients seen in cancer genetics clinics at an academic medical center and a safety-net hospital between August 2016 and December 2022. Cohort 1 consisted of patients with likely pathogenic/pathogenic variants (LPV/PV) in hereditary PGL/PCC predisposition genes. Cohort 2 consisted of patients with a personal history of a PGL/PCC. Demographics, personal/family history, and genetic testing outcomes were analyzed.

Results: A total of 560 patients met study criteria (Cohort 1, n=364; Cohort 2, n=269). In Cohort 1, 77 (21.1%) patients had an incidental LPV/PV in a PGL/PCC gene. Nearly half (n=36, 46.8%) were in SDHx genes, with a majority in SDHA (n=21). In Cohort 2, 86 patients tested positive for 87 LPV/PV in a hereditary cancer predisposition gene). The SDHx genes were most likely to have a LPV/PV identified (SDHB n=24, SDHD n=23).

Conclusions: Multigene panels identify patients at risk for hereditary PGL/PCC, many of whom are incidentally found. While SDHA LPV/PVs were the most frequent incidental finding, they were less common in patients with PGL/PCC, indicating the need for longitudinal studies to better understand the prevalence and penetrance of these tumors.

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