Rebrova D V, Vorokhobina N V, Imyanitov E N, Rusakov V F, Krasnov L M, Sleptsov I V, Chernikov R A, Fedorov E A, Semenov A A, Chinchuk I K, Sablin I V, Alekseev M A, Kuleshov O V, Fedotov Ju N
Saint Petersburg State University, Saint Petersburg State University Hospital.
North-Western State Medical University n.a. I.I. Mechnikov.
Probl Endokrinol (Mosk). 2021 Nov 15;68(1):8-17. doi: 10.14341/probl12834.
The widespread introduction of genetic testing in recent years has made it possible to determine that more than a third of cases of pheochromocytomas and paragangliomas (PPPGs) are caused by germline mutations. Despite the variety of catecholamine-producing tumors manifestations, there is a sufficient number of clinical and laboratory landmarks that suggest a hereditary genesis of the disease and even a specific syndrome. These include a family history, age of patient, presence of concomitant conditions, and symptoms of the disease. Considering that each of the mutations is associated with certain diseases that often determine tactics of treatment and examination of a patient, e.g. high risk of various malignancies. Awareness of the practitioner on the peculiarities of the course of family forms of PPPGs will allow improving the tactics of managing these patients.The article provides up-to-date information on the prevalence of hereditary PPPGs. The modern views on the pathogenesis of the disease induced by different mutations are presented. The main hereditary syndromes associated with PPPGs are described, including multiple endocrine neoplasia syndrome type 2A and 2B, type 1 neurofibromatosis, von Hippel-Lindau syndrome, hereditary paraganglioma syndrome, as well as clinical and laboratory features of the tumor in these conditions. The main positions on the necessity of genetic screening in patients with PPPGs are given.
近年来，基因检测的广泛应用使得超过三分之一的嗜铬细胞瘤和副神经节瘤（PPPGs）病例能够被确定为由种系突变引起。尽管产生儿茶酚胺的肿瘤表现多样，但仍有足够数量的临床和实验室特征表明该疾病具有遗传起源，甚至是特定综合征。这些特征包括家族病史、患者年龄、伴随疾病的存在以及疾病症状。考虑到每种突变都与某些疾病相关，而这些疾病往往决定了患者的治疗和检查策略，例如各种恶性肿瘤的高风险。临床医生了解PPPGs家族形式病程的特点将有助于改进对这些患者的管理策略。本文提供了关于遗传性PPPGs患病率的最新信息。介绍了由不同突变引起的疾病发病机制的现代观点。描述了与PPPGs相关的主要遗传综合征，包括2A和2B型多发性内分泌肿瘤综合征、1型神经纤维瘤病、冯·希佩尔－林道综合征、遗传性副神经节瘤综合征，以及这些情况下肿瘤的临床和实验室特征。给出了关于PPPGs患者进行基因筛查必要性的主要观点。
