A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma

The citric acid cycle, also known as the Krebs cycle, plays an integral role in cellular metabolism and aerobic respiration. Mutations in genes encoding the citric acid cycle enzymes succinate dehydrogenase, fumarate hydratase and malate dehydrogenase all predispose to hereditary tumour syndromes. The succinate dehydrogenase enzyme complex (SDH) couples the oxidation of succinate to fumarate in the citric acid cycle and the reduction of ubiquinone to ubiquinol in the electron transport chain. A loss of function in the succinate dehydrogenase (SDH) enzyme complex is most commonly caused by an inherited mutation in one of the four SDHx genes (SDHA, SDHB, SDHC and SDHD). This mechanism was first implicated in familial phaeochromocytoma and paraganglioma. However, over the past two decades the spectrum of tumours associated with SDH deficiency has been extended to include gastrointestinal stromal tumours (GIST), renal cell carcinoma (RCC) and pituitary adenomas. The aim of this review is to describe the extended tumour spectrum associated with SDHx gene mutations and to consider how functional tests may help to establish the role of SDHx mutations in new or unexpected tumour phenotypes.     

Ectopic Relapse of Anti-neutrophil Cytoplasmic Antibody-associated Pituitary Vasculitis with No Elevation of Anti-neutrophil Cytoplasmic Antibodies after Renal Remission

The relationship between anti-neutrophil cytoplasmic antibody (ANCA) titer levels and relapse risk in patients with ANCA-associated vasculitis (AAV) following clinical remission remains controversial. We herein report a case showing ectopic relapse of AAV in the pituitary with no ANCA elevation after renal remission. Magnetic resonance imaging revealed an enlarged pituitary gland. A pituitary biopsy showed geographic necrosis with multinucleated giant cells. We diagnosed this case as relapse of AAV in the pituitary. One month after rituximab therapy, the pituitary gland volume had decreased. The intensification of therapy due to the possibility of vasculitis relapse may facilitate better control of AAV.     

Investigation and management of adrenal disease

Disorders of the adrenal gland are rare and complex, with many potential pitfalls in management. An understanding of embryology, anatomy, physiology and biochemistry is crucial. There has been a dramatic increase in the incidental detection of adrenal lesions on cross sectional imaging in recent years. Surgical treatment may be required for syndromes of hormonal excess and/or suspicion of malignancy.     

单鼻孔内镜下经鼻蝶垂体瘤切除术后视野恢复情况

目的:观察垂体瘤患者行单鼻孔内镜下经鼻蝶垂体瘤切除术后视野恢复情况,探讨影响因素.方法:纳入垂体瘤患者48例(96只眼).所有患者术前均接受视力、视野、眼底荧光造影、垂体MRI、中心视野检查.术后3~6个月对患者的视野情况进行评估,同时进行垂体MRI以及内分泌检查.对于可能影响患者术后视野的因素进行单因素与多因素Logistic回归分析.结果:单因素分析显示:患者的年龄、肿瘤最大直径、术前MD值的绝对值、术前视力、症状持续时间等与患者术后视野恢复有着密切的联系(P<0.05).多因素Logistic回归分析显示:患者的年龄、术前MD值的绝对值、肿瘤最大直径是影响患者术后视野恢复的高危因素(P<0.05).结论:单鼻孔内镜下经鼻蝶垂体瘤切除术是目前临床治疗垂体瘤较为有效的一种手术方式,对于术前MD绝对值较低,肿瘤最大直径较小以及年龄较小的患者,术后视野恢复情况相对较好.