Advancing Education, Research, and Quality of Care for the Head and Neck oncology patient.
INTRODUCTION: Neoplasms of cells of the paraganglion system are rare and referred to as pheochromocytomas when located within the adrenal gland and paragangliomas (PGLs) when found elsewhere. Approximately 70% of PGLs are found in the head and neck. Increasing genetic testing of PGL and PCC patients has led to establishment of the clinical entity known as Hereditary Paraganglioma/Pheochromocytoma (PGL/PCC) Syndrome (PGL/PCC). The rate of a positive germline mutation in patients presenting with a paraganglioma is 40%, thus, integration of genetic testing is critical in this subset of patients. The aim of this study is to evaluate the impact of integrating point of care (POC) testing into the care of paraganglioma patients.
METHODS: A retrospective analysis of patients diagnosed with a head and neck paraganglioma at a single high-volume institution. We performed a review of the genetic counseling referrals for all head and neck paraganglioma patients from August 2008 - April 2024. In December 2022, our institution started POC blood testing (a multigenel panel which includes all genes known to be implicated in PGL) in our paraganglioma clinic for any new patient encounter in lieu of a referral for a separate appointment with a genetic counselor for genetic testing (traditional genetic testing referral). A quantitative analysis was performed.
RESULTS: A total of 284 patients presented with a head and neck paraganglioma, including 94 males (33.1%) and 190 females (66.9%). The median age was 62 years (interquartile range [IQR] 46-72 years). There were 220 who had a traditional referral to genetics (including 37 who underwent familial PV testing), 24 who declined referral upfront, and 40 who had POC testing. Within the traditional referral group, 46 (20.9%) did not follow through with genetic testing. In the total number of patients that were seen before the POC program was implemented (n=242), 70 (28.9%) ultimately never received testing. Among patients who received POC testing (n=40), 32% were found to have results positive for pathogenic variants of Hereditary PGL/PCC Syndrome, importantly with 5 patients testing positive for a SDHB mutation. In one of the patient with a SDHB pathogenic variant, subsequent Dotatate PET scan revealed a retroperitoneal PGL.
CONCLUSION: POC testing in the care of head and neck paraganglioma patients increases genetic testing rates, avoids additional visits reducing costs, and is more convenient for patients. This approach allows for rapid identification of patients with a pathogenetic variant, which leads to genetic counseling that can identify other family members that may harbor a mutation. Furthermore, genetic testing leads patient down an algorithm of additional testing, including PET/CT imaging, that can identify other potential tumors. Ultimately, our institution has had great success with integration of clinic POC genetic testing, and may serve as a model for other institutions who care for patients with head and neck paragangliomas.