Endocrine Abstracts

JOINT2965

Neurofibromatosis type 1 (NF1) is one of the most common genodermatoses, and it can be associated with pheochromocytoma (PСC) in up to 14,6% of patients. PCC linked to NF1 gene mutation belongs to the 2nd molecular cluster of genetic alterations that usually has low risk of tumor progression and metastasis. We present a clinical case of PСC in a female patient with NF1 and high potential for progression. Female patient P., 72 years old, has a medical history of multiple neurofibromas and skin spots since childhood, but no one paid attention to these signs. Over the last year, she noted episodes of rapid heartbeat and high blood pressure (BP) up to 190/90mmHg at the first time, so antihypertensive therapy was prescribed. Upon physical examination, BMI-18.9 kg/m², BP 124/78 mmHg, heart rate 68 bpm. She had multiple neurofibromas ranging in size from a few mm to 2 cm, "freckling" of the skin and multiple Lisch nodules on the iris of the eyes, which provided diagnosis of NF1. The tests showed an increase in metanephrines to 649 mg/day(18-277), normetanephrines to 3248 mg/day(42-423), testosterone to 8,16nmol/l (0,46-1,18). CT-scans demonstrated a formation of the right adrenal gland, 83x68x69mm with native illumination +38HU and areas of necrosis. After adrenalectomy histological and immunohistochemical examinations of the tumor verified PCC with a high potential for progression (average proliferation index Ki67 16.5%, PASS 9 points, GAPP 5 points). Six weeks after surgery, there was no any episodes of high BP, but there was a slightly elevated level of normetanephrines to 119 mg/day (5-77), after another 4,5 months to 363 mg/day. Testosterone levels also remained elevated up to 11,04nmol/l. This case demonstrates the lack of attention of doctors to NF1 diagnosis. Despite such a vivid clinical signs, the diagnosis was established during hospitalization at the age of 72. The development of arterial hypertension at this age may well be natural, which in turn can complicate the diagnosis of PCC. Despite the fact that NF1-associated PCC could have a low progression potential, in our clinical case high risk of malignance was detected. An increasing testosterone level is not characteristic of PCC, so the search for the source of hyperandrogenemia is needed. The patient is currently undergoing additional examination to exclude residual PСC tissue and a possible androgen-producing tumor.