Abstract:
:A 29-year-old hypertensive male with von Hippel-Lindau (VHL) syndrome came to the Endocrinology department for evaluation. Contrast-enhanced computed tomography of the abdomen revealed an adrenal mass, bilateral renal cell carcinoma, and multiple pancreatic cysts. The hormonal investigations for adrenal mass were normal. He underwent left-sided adrenalectomy, and the histopathological report was suggestive of an adrenocortical adenoma. Genetic analysis of VHL gene in this patient revealed a heterogeneous 5' splice site variation of intron 1 of the VHL gene that affects splice site of exon 1 (c. 340 + 1G > A). Adrenocortical adenoma is very rare in VHL syndrome. Only two cases of adrenocortical adenoma in VHL have been reported in the literature, and both were associated with pheochromocytoma. This is probably the first reported case of adrenocortical adenoma in VHL syndrome without accompanying pheochromocytoma.
journal_name
J Cancer Res Therjournal_title
Journal of cancer research and therapeuticsauthors
Palui R,Kamalanathan S,Sahoo J,Dorairajan LN,Badhe B,Gochhait Ddoi
10.4103/jcrt.JCRT_127_18subject
Has Abstractpub_date
2019-03-01 00:00:00pages
S163-S166issue
Supplementeissn
0973-1482issn
1998-4138pii
JCanResTher_2019_15_8_163_244437journal_volume
15pub_type
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