Pheochromocytoma in Neurofibromatosis Type 1
D. V. Rebrova,
O. I. Loginova,
S. L. Nepomnyashchaya,
A. R. Bakhtiyarova,
V. F. Rusakov,
L. M. Krasnov,
E. A. Fedorov,
I. K. Chinchuk,
Sh. Sh. Shikhmagomedov,
E. N. Imyanitov,
O. V. Kuleshov,
M. A. Alekseev,
T. S. Pridvijkina,
T. V. Savelyeva,
A. A. Semenov,
E. A. Zgoda,
R. A. Chernikov,
I. V. Sleptsov https://doi.org/10.14341/probl13608
Abstract
Neurofibromatosis type 1 is a hereditary disease with a wide variability of clinical manifestations, from the almost complete absence of typical symptoms to a multisystem lesion of the body. One of the possible clinical manifestations of this pathology is a pheochromocytoma — a tumor of the adrenal gland with the possible development of considerable cardiovascular complications. The article describes four cases of patients with pheochromocytoma as part of familial neurofibromatosis type 1, differing in clinical course from asymptomatic form to vivid paroxysmal manifestations. At the same time, the presence and degree of arterial hypertension did not correlate with the level of metanephrines and the size of the pheochromocytoma. 3 out of 4 patients have a hereditary history of neurofibromatosis type 1. In 1 out of 4 cases, simultaneous bilateral damage to the adrenal glands was noted, while the radiation characteristics of pheochromocytomas, both with computed tomography and CT/PET with 18-FDG, differed from the "classic" ones. An objective examination with the identification of "erased" signs of neurofibromatosis type 1 made it possible to establish the diagnosis of bilateral pheochromocytoma even with questionable laboratory and imaging data. Knowledge of clinical manifestations, timely diagnosis of neurofibromatosis type 1, comprehensive treatment and subsequent regular monitoring of patients, as well as examination of blood relatives can significantly improve prognosis and survival.
About the Authors
D. V. Rebrova
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Dina V. Rebrova - MD, PhD,
154 Fontanka river embankment, 190103, Saint Petersburg
O. I. Loginova
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Olga I. Loginova - MD,
154 Fontanka river embankment, 190103, Saint Petersburg
S. L. Nepomnyashchaya
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Svetlana L. Nepomnyashchaya - MD, PhD,
154 Fontanka river embankment, 190103, Saint Petersburg
A. R. Bakhtiyarova
Saint Petersburg State University, Saint Petersburg State University Hospital;
Almazov National Medical Research Center
Russian Federation
Russian Federation
Alyuza R. Bakhtiyarova - MD, 154 Fontanka river embankment, 190103, Saint Petersburg
V. F. Rusakov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Vladimir F. Rusakov - MD, PhD,
154 Fontanka river embankment, 190103, Saint Petersburg
L. M. Krasnov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Leonid M. Krasnov - MD, DSc Med,
154 Fontanka river embankment, 190103, Saint Petersburg
E. A. Fedorov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Elisey A. Fedorov - MD, PhD,
154 Fontanka river embankment, 190103, Saint Petersburg
I. K. Chinchuk
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Igor K. Chinchuk - MD, PhD,
154 Fontanka river embankment, 190103, Saint Petersburg
Sh. Sh. Shikhmagomedov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Shamil S. Shikhmagomedov - MD,
154 Fontanka river embankment, 190103, Saint Petersburg
E. N. Imyanitov
National Medical Research Center of Oncology n.a. N.N. Petrov
Russian Federation
Russian Federation
Evgeny N. Imyanitov - MD, DSc Med, Corresponding Member of RAS,
Saint Petersburg
O. V. Kuleshov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Mikhail A. Alekseev - MD,
154 Fontanka river embankment, 190103, Saint Petersburg
M. A. Alekseev
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Oleg V. Kuleshov - MD, PhD,
154 Fontanka river embankment, 190103, Saint Petersburg
T. S. Pridvijkina
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Tatjana S. Pridvizhkina - MD, PhD,
154 Fontanka river embankment, 190103, Saint Petersburg
T. V. Savelyeva
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Tatyana V. Savelyeva - MD, PhD,
154 Fontanka river embankment, 190103, Saint Petersburg
A. A. Semenov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
154 Fontanka river embankment, 190103, Saint Petersburg
E. A. Zgoda
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Ekaterina A. Zgoda - MD,
154 Fontanka river embankment, 190103, Saint Petersburg
R. A. Chernikov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Roman A. Chernikov - MD, DSc Med,
154 Fontanka river embankment, 190103, Saint Petersburg
I. V. Sleptsov
Saint Petersburg State University, Saint Petersburg State University Hospital
Russian Federation
Russian Federation
Ilya V. Sleptsov - MD, DSc Med,
154 Fontanka river embankment, 190103, Saint Petersburg
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1. Figure 1. Cutaneous manifestations of neurofibromatosis type 1 in patient N., 58 years old. | |
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2. Figure 2. Computed tomography of the adrenal glands of patient N., 58 years old, arterial phase. | |
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For citations:
Rebrova D.V., Loginova O.I., Nepomnyashchaya S.L., Bakhtiyarova A.R., Rusakov V.F., Krasnov L.M., Fedorov E.A., Chinchuk I.K., Shikhmagomedov Sh.Sh., Imyanitov E.N., Kuleshov O.V., Alekseev M.A., Pridvijkina T.S., Savelyeva T.V., Semenov A.A., Zgoda E.A., Chernikov R.A., Sleptsov I.V. Pheochromocytoma in Neurofibromatosis Type 1. Problems of Endocrinology. 2026;72(1):69-79. (In Russ.) https://doi.org/10.14341/probl13608
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