RESUMO
Head and neck paragangliomas (HNPGLs) are rare and have high rates of genetic mutations. We conducted a retrospective review of 187 patients with 296 PGLs diagnosed between 1974 and 2023. The mean age of diagnosis was 48.8 years (range 10 to 82) with 69.0% female and 26.5% patients with multiple PGLs. Among 119 patients undergoing genetic testing, 70 (58.8%) patients had mutations, with SDHB (30) and SDHD (26) being the most common. The rates of metastasis and recurrence were higher among patients with SDHB mutations or SDHD mutations associated with multiple PGLs. Metabolic evaluation showed elevated plasma dopamine levels were the most common derangements in HNPGL. MRI and CT were the most common anatomic imaging modalities and DOTATATE was the most common functional scan used in this cohort. Most patients (81.5%) received surgery as the primary definitive treatment, while 22.5% patients received radiation treatment, mostly as an adjuvant therapy or for surgically challenging or inoperable cases. Systemic treatment was rarely used in our cohort. Our single-center experience highlights the need for referral for genetic testing and metabolic evaluation and for a team-based approach to improve the clinical outcomes of patients with HNPGLs.
RESUMO
Neonatal HNT in the pharynx is a rare cause of respiratory distress and poor feeding in the newborn, but must be differentiated from teratoma, encephalocele, and nasal glioma. While surgical resection is the preferred treatment modality, we posit there is a role for sclerosis of the glial heterotopic cyst if complete surgical excision is not possible or carries risk of high morbidity. Here, we present a case of a 7-day-old neonate presenting with acute respiratory distress found to have a nasopharyngeal/oropharyngeal mass ultimately treated with sclerotherapy at 9 months of age.