Open AccessNon-Functioning Pheochromocytoma in a Patient With Von Hippel Lindau Syndrome (VHL): Case Report
Author(s) -
Gustavo Piech Ricardo,
Nilza Maria Scalissi,
Cristina Bellotti Formiga Bueno,
Renata C. Scalco,
José Viana Lima
Publication year - 2021
Publication title -
journal of the endocrine society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.046
H-Index - 20
ISSN - 2472-1972
DOI - 10.1210/jendso/bvab048.2050
Subject(s) - pheochromocytoma , medicine , metanephrines , sdhb , pathology , adrenal gland , endocrinology , loss of heterozygosity , germline mutation , biology , allele , mutation , biochemistry , gene
Background: We report the case of a patient with VHL Syndrome with an adrenal lesion compatible with non-functioning pheochromocytoma and it’s diagnostic management. Case Report: JMN, female, 32 years old, referred for screening for VHL syndrome, after diagnosis in a sister, who has clear cell renal carcinoma (ccRCC), cerebellar hemangioblastoma and genetic analysis, by next generation sequencing (NGS), which identified the allelic variant germline pathogenic c. 256C> T in heterozygosis in exon 1 of the VHL gene. The patient is asymptomatic and her physical examination is normal. Optic fundus examination with lesion suggestive of right hemangioblastoma. Family history: mother who died at 59 with a diagnosis of ccRCC, without genetic investigation. Maternal aunt diagnosed with VHL and involvement of the cerebellum, kidney and pancreas. Two brothers with genetic and clinical diagnosis of VHL syndrome, presenting pheochromocytoma and renal carcinoma. Laboratory tests: plasma metanephrine: 0.3 nmol/L (RV <0.5nmol/L), plasma normetanephrine: 0.5 nmol/L (RV <0.9nmol/L), chromogranin A 61 ng/mL (RV <93 ng/ml). Genetic evaluation by NGS identified the pathogenic variant c. 256C> T in heterozygosity in exon 1 of the VHL gene. Topographic examinations: magnetic resonance imaging (MRI) of adrenals with nodule in the left adrenal gland, hypersignal in T2, measuring 2.9 x 2.3 cm, suggestive of pheochromocytoma and whole body scintigraphy with metaiodobenzylguanidine (MIBG) positive in the left adrenal gland. She underwent resection of the tumor in the left adrenal, without complications. Anatomopathology compatible with pheochromocytoma with immunohistochemistry for ki67 <3%. Currently, the patient is clinically stable and with periodic follow-up, as well as family members, performing screening for diseases associated with VHL. Conclusion: VHL syndrome is one of the possible causes of non-functioning pheochromocytomas and paragangliomas, and adrenal lesions with negative metanephrine levels do not exclude them; thus highlighting the importance of exams such as CT or MRI and functional topographic studies (whole body scintigraphy with MIBG and / or PETCT with Galio68DOTA) for their diagnosis.