Stütz Beryl, Korbonits Marta, Kothbauer Karl, Müller Werner, Fischli Stefan
Department of Endocrinology, Diabetes and Clinical Nutrition, Luzerner Kantonsspital, Luzern, Switzerland.
Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
Endocrinol Diabetes Metab Case Rep. 2020 Sep 23;2020. doi: 10.1530/EDM-20-0119.
The coincidence of a pheochromocytoma or paraganglioma and a pituitary adenoma in the same patient is a rare condition. In the last few years SDHx and MAX mutations have been identified and discussed as a potential causal connection in cases of coincidence. We describe a case of a middle-aged female patient which presented with acromegaly, a growth hormone-secreting pituitary adenoma and a symptomatic neck paraganglioma. The patient was cured by surgery from both the pituitary tumour and the paraganglioma and is well after ten years follow-up. Due to the unusual coexistence of two neuroendocrine tumours, further molecular genetic testing was performed which revealed a variant in the TMEM127 gene (c245-10C>G).
Pheochromocytoma/paraganglioma and coexisting functioning pituitary adenoma are a very rare condition. An appropriate treatment of each tumour entity with a multi-disciplinary approach and regular follow-up is needed. The possibility of a hereditary disease should be considered and genetic workup is recommended. Genetic testing should focus primarily on the genes with mutations related to pheochromocytomas and paragangliomas. Next-generation sequencing with multi-gene panel testing is the currently suggested strategy. Genes associated with paragangliomas and pituitary adenomas are SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX and MEN1, while case reports with VHL, RET and NF1 may represent coincidences. Variants of uncertain significance may need ongoing vigilance, in case novel data become available of these variants.
嗜铬细胞瘤或副神经节瘤与垂体腺瘤在同一患者中同时出现是一种罕见情况。在过去几年中，已鉴定并讨论了SDHx和MAX突变，认为它们在这种同时出现的病例中可能存在因果关系。我们描述了一例中年女性患者，该患者患有肢端肥大症、分泌生长激素的垂体腺瘤和有症状的颈部副神经节瘤。该患者通过手术治愈了垂体肿瘤和副神经节瘤，经过十年随访情况良好。由于这两种神经内分泌肿瘤异常共存，因此进行了进一步的分子遗传学检测，结果显示TMEM127基因存在一个变异（c245 - 10C>G）。
嗜铬细胞瘤/副神经节瘤与并存的功能性垂体腺瘤是一种非常罕见的情况。需要采用多学科方法对每个肿瘤实体进行适当治疗并定期随访。应考虑遗传性疾病的可能性，并建议进行基因检查。基因检测应主要关注与嗜铬细胞瘤和副神经节瘤相关的突变基因。目前建议采用多基因panel检测的二代测序策略。与副神经节瘤和垂体腺瘤相关的基因有SDHA、SDHB、SDHC、SDHD、SDHAF2、MAX和MEN1，而关于VHL、RET和NF1的病例报告可能只是巧合。意义未明的变异可能需要持续监测，以防有关于这些变异的新数据出现。
