Institute for Clinical Chemistry and Laboratory Medicine, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany.
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda 20892, MD, United States.
Eur J Endocrinol. 2024 Sep 30;191(4):389-398. doi: 10.1093/ejendo/lvae113.
Head-neck paragangliomas (HNPGLs) are rare tumors with approximately half arising due to germline pathogenic variants (PVs) in succinate dehydrogenase genes (SDHx). Patients with HNPGL have heterogeneous propensity to recur and metastasize. Thus, we aim to assess prevalence and predictors of recurrent (RD) and/or metastatic disease in patients with and without SDHx-related HNPGLs.
This cross-sectional study used retrospective data of 214 patients enrolled in six referral centers. Data included sex, age, primary tumor treatment, location, and size, biochemical phenotype, germline PVs, presence of RD (locoregional or new tumor), and/or metastasis.
Patients with and without SDHx-related HNPGLs showed 74% and 40% prevalence of RD, respectively. Patients without SDHx-related HNPGLs presented with recurrent tumors only in head-neck regions. The only independent predictor for RD in the entire cohort was presence of SDHx PVs. Metastatic prevalence reached 9%-13%. For patients with SDHx-related HNPGLs, large tumor size (>2.3 cm, OR:50.0, CI:2.6-977.6), young age at initial diagnosis (<42years, OR:27.3, CI:1.8-407.2), and presence of SDHB PV (OR:15.6; CI:1.5-164.8) were independent predictors of metastasis. For patients without SDHx-related HNPGLs, only carotid-body location was an independent predictor of metastasis (OR:18.9, CI:2.0-182.5).
Patients without SDHx-related HNPGLs require long-term follow-up due to high prevalence of RD with imaging largely restricted to head-neck regions. As carotid-body HNPGLs have the highest metastatic risk among sporadic tumors, radical treatment with frequent follow-up is suggested until population-based data are available. Importantly, patients with SDHx-related HNPGLs might benefit from early radical treatment when tumors are still small to reduce metastatic risk.
头颈部副神经节瘤（HNPGL）是一种罕见的肿瘤，大约有一半是由于琥珀酸脱氢酶基因（SDHx）的种系致病性变异（PV）引起的。HNPGL 患者具有异质性的复发和转移倾向。因此，我们旨在评估有和没有 SDHx 相关 HNPGL 的患者中复发（RD）和/或转移性疾病的患病率和预测因素。
这项横断面研究使用了六个转诊中心 214 名患者的回顾性数据。数据包括性别、年龄、原发肿瘤治疗、位置和大小、生化表型、种系 PV、RD（局部或新肿瘤）和/或转移的存在。
有和没有 SDHx 相关 HNPGL 的患者 RD 的患病率分别为 74%和 40%。没有 SDHx 相关 HNPGL 的患者仅在头颈部区域出现复发性肿瘤。整个队列中 RD 的唯一独立预测因素是存在 SDHx PV。转移的患病率达到 9%-13%。对于有 SDHx 相关 HNPGL 的患者，肿瘤较大（>2.3cm，OR：50.0，CI：2.6-977.6）、初始诊断年龄较小（<42 岁，OR：27.3，CI：1.8-407.2）和存在 SDHB PV（OR：15.6；CI：1.5-164.8）是转移的独立预测因素。对于没有 SDHx 相关 HNPGL 的患者，只有颈动脉体位置是转移的独立预测因素（OR：18.9，CI：2.0-182.5）。
没有 SDHx 相关 HNPGL 的患者需要长期随访，因为影像学检查主要局限于头颈部区域，复发率较高。由于散发性肿瘤中颈动脉体 HNPGL 的转移风险最高，建议进行根治性治疗，并进行频繁随访，直到获得人群数据。重要的是，当肿瘤还小时，SDHx 相关 HNPGL 的患者可能受益于早期根治性治疗，以降低转移风险。
