Mass on Kidney and Adrenal Gland: Genetic Variants in VHL, SDHB, and RET

Pheochromocytoma (PCC) and paraganglioma (PGL), collectively known as PPGL, are rare neuroendocrine tumors that arise from chromaffin cells in the adrenal medulla and extra-adrenal ganglia. These tumors can produce catecholamines such as epinephrine, norepinephrine, and dopamine, leading to clinical presentation of hypertension, headache, diaphoresis, palpitations, and other symptoms (Lenders et al., 2020).

Genetic variants in VHL, SDHB, and RET have been identified as key contributors to the development of PPGL. A recent study published in investigated the genetic characteristics of six Chinese PPGL patients and found that genetic variants in these genes contributed to the knowledge of the genetic etiology and clinical outcome of these tumors.

The study involved whole exome sequencing of DNA isolated from the probands, followed by Sanger sequencing and bioinformatic analysis. The results showed that six different genetic variants were identified in the six probands, three of which were novel. A von Hippel-Lindau (VHL) variant, c.602T>C (p.L201P), was found to be a novel variant in exon 3.

The study also found two recurrent genetic variants of VHL, c.C284G (p.P95R) and c.558_560AGAdel (p.186Edel), as well as one in RET (ret proto-oncogene), c.1901G>A (p.C634Y). Two novel genetic variants in SDHB (succinate dehydrogenases subunit B), c.423+1 G>T and c.662A>G (p.D221G), were also identified.

The findings of this study provide valuable insights into the genetic etiology and clinical outcome of PPGL, and highlight the importance of genetic testing for patients with suspected PPGL. Early detection and treatment of these tumors can significantly improve patient outcomes.

In conclusion, genetic variants in VHL, SDHB, and RET play a crucial role in the development of PPGL, and identifying these variants can help guide diagnosis and treatment. Further research is needed to fully understand the complex relationship between genetics and PPGL.

Mass on kidney and adrenal gland