Departments of Otolaryngology-Head and Neck Surgery.
Huntsman Cancer Institute, University of Utah Health, Salt Lake City, Utah.
Otol Neurotol. 2023 Oct 1;44(9):931-940. doi: 10.1097/MAO.0000000000003989. Epub 2023 Aug 15.
Characterize the natural history and clinical behavior of head and neck paragangliomas (HNPGLs) in subjects with succinate dehydrogenase ( SDHx ) pathogenic variants using volumetric tumor measurements.
Cohort study.
Tertiary academic referral center.
Subjects with SDHx HNPGLs under observation for at least 6 months with 2 or more magnetic resonance imaging or computed tomography scans.
Diagnostic interventions include next-generation sequencing, magnetic resonance imaging, and computed tomography. Therapeutic interventions include microsurgical resection or stereotactic radiosurgery.
Radiographic progression was defined as a 20% or greater increase in volume. Cranial nerve (CN) functional outcomes were assessed using clinical documentation.
A total of 19 subjects with 32 tumors met the inclusion criteria. Median radiographic follow-up was 2.2 years, and the median volumetric growth rate was 0.47 cm 3 /yr. Kaplan-Meier estimated rates of survival free of radiographic progression for all SDHx tumors at 1, 2, and 3 years were 69, 50, and 22%, respectively. No tumors developed new CN palsies during the period of observation.
Over intermediate-term follow-up, observation of treatment-naive SDHx -related HNPGLs did not result in new cranial neuropathy. Although indefinite observation is only appropriate for select cases, these data support an interval of observation to characterize growth rate in asymptomatic to minimally symptomatic patients, who are at high risk of treatment-related morbidity. Given the early age at diagnosis and high risk of bilateral multifocal phenotypes in SDHx HNPGL mutation carriers, these data may aid in optimizing patient tumor control and CN functional preservation. Further studies are necessary to determine whether pretreatment growth rate is correlated with clinical outcomes.
使用肿瘤体积测量来描述具有琥珀酸脱氢酶（SDHx）致病性变异的患者的头颈部副神经节瘤（HNPGL）的自然病史和临床行为。
队列研究。
三级学术转诊中心。
至少观察了 6 个月并有 2 次或以上磁共振成像或计算机断层扫描的 SDHx HNPGL 患者。
诊断干预措施包括下一代测序、磁共振成像和计算机断层扫描。治疗干预措施包括显微外科切除术或立体定向放射外科手术。
影像学进展定义为体积增加 20%或以上。颅神经（CN）功能结果通过临床记录进行评估。
共有 19 名患者的 32 个肿瘤符合纳入标准。中位影像学随访时间为 2.2 年，中位体积增长率为 0.47cm³/yr。Kaplan-Meier 估计所有 SDHx 肿瘤在 1、2 和 3 年内无影像学进展的生存率分别为 69%、50%和 22%。在观察期间，没有肿瘤发生新的 CN 麻痹。
在中期随访中，对未经治疗的 SDHx 相关 HNPGL 进行观察不会导致新的颅神经病变。虽然无限期观察仅适用于某些病例，但这些数据支持对无症状至轻度症状患者进行观察以确定生长速度，这些患者存在治疗相关发病率的高风险。鉴于 SDHx HNPGL 突变携带者的诊断年龄较早且双侧多灶性表型的风险较高，这些数据可能有助于优化患者的肿瘤控制和 CN 功能保留。需要进一步的研究来确定治疗前的生长速度是否与临床结果相关。
