Atypical and typical course of neurofibromatosis type 1 in combination with pheochromocytoma
M. Yu. Yukina,
E. S. Avsievich,
A. S. Pushkareva,
N. F. Nuralieva,
E. V. Bondarenko,
N. M. Platonova,
D. G. Beltsevich,
E. A. Troshina https://doi.org/10.14341/serg12730
Abstract
Neurofibromatosis type 1 is a hereditary disease that has a multisystem character of organism damage, a wide variability of clinical manifestations, up to the almost complete absence of typical symptoms. Phenotypic manifestations, their expressiveness and heaviness can be varied even among members of the same family with identical mutations. One of the possible clinical manifestations of this pathology is pheochromocytoma, the development of which is associated with a high risk of developing life-threatening conditions. Timely diagnosis of the disease, the choice of treatment tactics for the patient, genetic testing of blood relatives can significantly improve the survival rate and prognosis of the disease. In this article, on the presented clinical examples of patients with a typical and atypical course of type 1 neurofibromatosis in combination with pheochromocytoma, the issues of managing patients with this pathology are outlined.
About the Authors
M. Yu. Yukina
Endocrinology Research Centre
Russian Federation
Russian Federation
Marina Yu. Yukina, MD, PhD
11 Dm. Ulyanova street, 117036 Moscow
eLibrary SPIN: 4963-8340
E. S. Avsievich
Endocrinology Research Centre
Russian Federation
Russian Federation
Ekaterina S. Avsievich, resident
Moscow
A. S. Pushkareva
Endocrinology Research Centre
Russian Federation
Russian Federation
Anastasiia S. Pushkareva, resident
Moscow
eLibrary SPIN 1996-5308
N. F. Nuralieva
Endocrinology Research Centre
Russian Federation
Russian Federation
Nurana F. Nuralieva, MD
Moscow
eLibrary SPIN-код: 7373-2602
E. V. Bondarenko
Endocrinology Research Centre
Russian Federation
Russian Federation
Yekaterina V. Bondarenko, MD, PhD
Moscow
eLibrary SPIN: 3564-7654
N. M. Platonova
Endocrinology Research Centre
Russian Federation
Russian Federation
Nadezhda M. Platonova, MD, PhD
Moscow
eLibrary SPIN: 4053-3033
D. G. Beltsevich
Endocrinology Research Centre
Russian Federation
Russian Federation
Dmitriy G. Beltsevich, MD, PhD, Professor
Moscow
eLibrary SPIN: 4475-6327
E. A. Troshina
Endocrinology Research Centre
Ekaterina A. Troshina, MD, PhD, professor
Moscow
eLibrary SPIN: 8821-8990
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Supplementary files
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1. Figure 1. Histological examination of the right adrenal gland surgical material (hematoxylin-eosin) of patient K. (A) — tumor of the right adrenal gland, outside of which the adrenal gland tissue with a preserved layered structure (x40) is determined. (B) — tumor of the alveolar structure from chromaffin cells with hemorrhages of different age (x200). | |
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2. Figure 2. NF1 mutation: NM_000267: c.107C>G:p.T36 of patient K. | |
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3. Figure 3. Multiple neurofibromas of the breast area in patient S. | |
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4. Figure 4. Neurofibromas and café-au-lait spots on the back of patient C. | |
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5. Figure 5. CT of the retroperitoneum of patient S. | |
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6. Figure 6. Macroscopic examination of the right adrenal gland tissue of patient S.: A — adrenal gland with a volumetric lesion; B — sectional view of a red-brown tumor, along the periphery of which the adrenal gland with a preserved layered structure is determined. | |
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7. Figure 7. Histological examination of the right adrenal gland surgical material (hematoxylin-eosin) of patient C. A — tumor of the right adrenal gland, beyond which the adrenal gland tissue with a preserved layered structure (x40) is determined; B — tumor of alveolar structure from chromaffin cells with hemorrhages (x100). | |
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For citations:
Yukina M.Yu., Avsievich E.S., Pushkareva A.S., Nuralieva N.F., Bondarenko E.V., Platonova N.M., Beltsevich D.G., Troshina E.A. Atypical and typical course of neurofibromatosis type 1 in combination with pheochromocytoma. Endocrine Surgery. 2021;15(3):30-40. (In Russ.) https://doi.org/10.14341/serg12730
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