Palui Rajan, Kamalanathan Sadishkumar, Sahoo Jayaprakash, Dorairajan Lalgudi Narayanan, Badhe Bhawana, Gochhait Debasis
Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
Department of Urology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.
J Cancer Res Ther. 2019 Mar;15(Supplement):S163-S166. doi: 10.4103/jcrt.JCRT_127_18.
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.
一名患有冯·希佩尔-林道（VHL）综合征的29岁高血压男性前往内分泌科进行评估。腹部增强计算机断层扫描显示肾上腺肿块、双侧肾细胞癌和多个胰腺囊肿。对肾上腺肿块进行的激素检查结果正常。他接受了左侧肾上腺切除术，组织病理学报告提示为肾上腺皮质腺瘤。对该患者的VHL基因进行基因分析，发现VHL基因第1内含子的5'剪接位点存在异质性变异，影响外显子1的剪接位点（c. 340 + 1G > A）。肾上腺皮质腺瘤在VHL综合征中非常罕见。文献中仅报道了2例VHL综合征合并肾上腺皮质腺瘤的病例，且均与嗜铬细胞瘤有关。这可能是首例报道的VHL综合征合并肾上腺皮质腺瘤且无嗜铬细胞瘤伴随的病例。
