Clinical and laboratory features of hereditary pheochromocytoma and paraganglioma
D. V. Rebrova,
N. V. Vorokhobina,
E. N. Imyanitov,
V F. Rusakov,
L. M. Krasnov,
I. V. Sleptsov,
R. A. Chernikov,
E. A. Fedorov,
A. A. Semenov,
I. K. Chinchuk,
I. V. Sablin,
M. A. Alekseev,
O. V. Kuleshov,
Ju. N Fedotov https://doi.org/10.14341/probl12834
Abstract
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.
About the Authors
D. V. Rebrova
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Dina V. Rebrova, MD, PhD
SPIN-код: 6284-9008
154 Fontanka river embankment, 190103, Saint Petersburg,
N. V. Vorokhobina
North-Western State Medical University n.a. I.I. Mechnikov
Russian Federation
Russian Federation
Natalya V. Vorokhobina, MD, PhD, Prof.
SPIN-код: 4062-6409
Saint Petersburg
E. N. Imyanitov
National Medical Research Center of Oncology n.a. N.N. Petrov
Russian Federation
Russian Federation
Evgeny N. Imyanitov, MD, PhD, Prof., Corresponding Member of RAS
SPIN-код: 1909-7323
Saint Petersburg
V F. Rusakov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Vladimir F. Rusakov, MD, PhD
SPIN-код: 1345-3530
Saint Petersburg
L. M. Krasnov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Leonid M. Krasnov, MD, PhD
SPIN-код: 355848
Saint Petersburg
I. V. Sleptsov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Ilya V. Sleptsov, MD, PhD
SPIN-код: 2481-4331
Saint Petersburg
R. A. Chernikov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Roman A. Chernikov, MD, PhD
SPIN-код: 7093-1088
Saint Petersburg
E. A. Fedorov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Elisey A. Fedorov, MD, PhD
SPIN-код: 5673-2633
Saint Petersburg
A. A. Semenov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Arseny A. Semenov, MD, PhD
SPIN-код: 6724-2170
Saint Petersburg
I. K. Chinchuk
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Igor K. Chinchuk, MD, PhD
SPIN-код: 6252-6710
Saint Petersburg
I. V. Sablin
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Ilya V. Sablin, MD
Saint Petersburg
M. A. Alekseev
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Mikhail A. Alekseev, MD
SPIN-код: 4342-4590
Saint Petersburg
O. V. Kuleshov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Oleg V. Kuleshov, MD, PhD
Saint Petersburg
Ju. N Fedotov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Jury N. Fedotov, MD, PhD
SPIN-код: 4833-3371
Saint Petersburg
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Supplementary files
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1. Рисунок 1. Основные клинико-лабораторные признаки генетических синдромов, ассоциированных с феохромоцитомой/параганглиомой, и типичная характеристика опухолей. Примечание: ЩЖ — щитовидная железа; ЖКТ — желудочно-кишечный тракт; ЦНС — центральная нервная система. | |
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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 J.N. Clinical and laboratory features of hereditary pheochromocytoma and paraganglioma. Problems of Endocrinology. 2022;68(1):8-17. (In Russ.) https://doi.org/10.14341/probl12834
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