Pheochromocytoma with neurofibromatosis type 1: description of a clinical case

A clinical case of neurofibromatosis 1 type in combination with pheochromocytoma in a 53-year-old woman with no family history of the disease is described. The diagnosis of neurofibromatosis 1 type was established on the basis of signs of the disease (glioma of the right optic nerve, epilepsy, hypertension, Lish nodules, osteoporosis). The diagnosis of pheochromocytoma was established according to the data of a multiple increase in the level of free metanephrines and normetanephrines in daily urine, a malignant CT phenotype of a tumor of the left adrenal gland, and confirmed by a pathomorphological examination. During genetic analysis, a variant HG38 not previously described in the literature in the heterozygous state was found in the NF1 gene in exon 38, leading to deletion of 4 nucleotides and a shift in the reading frame with a coverage depth of 170x. The variant is not found in the gnomAD population frequency database and most likely leads to loss of function of the corresponding copy of the gene, which makes it possible to attribute the pheochromocytoma in this case to the 2nd cluster of genetic abnormalities in paragangliomas. This case highlights the importance of timely diagnosis of neurofibromatosis type 1 to determine further follow-up and treatment plan. It also demonstrates the effectiveness of cooperation between specialists from different medical fields in the diagnosis and treatment of tumors secreting catecholamines, which can occur with neurofibromatosis 1 type.

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