A.F. Nasretdinov1, Sh.I. Musin1, A.V. Sultanbaev1, K.V. Menshikov1,2, V.E. Askarov1, N.I. Sultanbayeva1, I.A. Menshikova2, R.T. Ayupov1
1Republican Clinical Oncology Dispensary, Ufa
2Bashkir State Medical University, Ufa
Nasretdinov Aynur F. ― oncologist of the Department of antitumor drug therapy №2 of the Republican Clinical Oncology Dispensary
73/1 Oktyabrya Ave., Ufa, 450054, Russian Federation, e-mail: rkodrb@yandex.ru, ORCID ID: 0000-0001-8340-7962
Abstract. Pheochromocytoma is a rare but potentially aggressive tumor that requires intensive surgical, chemotherapeutic and symptomatic treatment. If it is not diagnosed at an early stage, further developments are dramatically fatal for the patient. This text provides an overview of a case of VHL, an associated disease that manifested by the development of pheochromocytoma. The article presents the pedigree of the patient, indicating the hereditary nature of the pathology. The case shows that a thorough collection of a hereditary history, as well as knowledge of the clinical features of hereditary syndromes, will make it possible to suspect the presence of the latter and conduct medical genetic counseling of the patient.
Key words: pheochromocytoma, early diagnosis, hereditary syndrome.