Ejaz Sadia, Nandam Neeharika, Maygarden Susan, Styner Maya
Endocrinology, Diabetes and Metabolism, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, USA.
Internal Medicine, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, USA.
Cureus. 2022 Aug 10;14(8):e27854. doi: 10.7759/cureus.27854. eCollection 2022 Aug.
Capable of generating excess catecholamines, untreated extra-adrenal paragangliomas (PGLs) result in severe cardiovascular morbidity and mortality. Increasingly, a hereditary basis can be identified to underlie PGLs, though such data are largely absent in populations of non-European descent. We present two patients with PGL, both exhibiting similar age, sex, and geographic ancestry. Our patients are unrelated, Kinyarwanda-speaking females from the Democratic Republic of the Congo. The first patient presented with lower extremity edema and poorly controlled hypertension and was found to have multifocal PGL in the abdomen and bladder, proven by biopsy and treated with surgical excision. Our second patient presented with palpitations, shortness of breath, headache, and hypertension, was found to have mediastinal PGL, and underwent surgical excision. Genetic testing was negative in both cases. The first patient has not shown recurrence based on active surveillance with imaging and biochemical testing. There is a concern for recurrence in the second patient, eight years after diagnosis, which is currently being investigated. Our second patient lived at a high altitude for most of her life, pointing toward a possible role of hypoxia in the pathogenesis of her tumor development. Our cases raise questions that require active inquiry regarding additional environmental and/or genetic factors that might predispose to PGLs in uncommon anatomic sites and in understudied, vulnerable populations.
未治疗的肾上腺外副神经节瘤（PGL）能够产生过量的儿茶酚胺，导致严重的心血管疾病和死亡。越来越多的研究表明，PGL具有遗传基础，尽管在非欧洲血统人群中这类数据基本缺失。我们报告了两名患有PGL的患者，她们在年龄、性别和地理血统方面相似。我们的患者互不相关，是来自刚果民主共和国讲基尼亚卢旺达语的女性。第一名患者出现下肢水肿和控制不佳的高血压，经活检证实腹部和膀胱有多发性PGL，并接受了手术切除治疗。第二名患者出现心悸、呼吸急促、头痛和高血压，被发现患有纵隔PGL，并接受了手术切除。两例患者的基因检测均为阴性。第一名患者通过影像学和生化检测进行主动监测，未显示复发。第二名患者在诊断八年后存在复发担忧，目前正在进行调查。我们的第二名患者一生中大部分时间生活在高海拔地区，这表明缺氧可能在其肿瘤发生机制中发挥作用。我们的病例提出了一些问题，需要积极探究在不常见解剖部位以及研究不足的脆弱人群中，可能导致PGL发生的其他环境和/或遗传因素。
