Genotype-phenotype correlations in paediatric and adolescent phaeochromocytoma and paraganglioma: a cross-sectional study

Conclusions
PC/PGL diagnosed in children and adolescents were strongly associated with germline pathogenic variants in VHL or SDHB. These patients should be referred to specialist services for family counselling and genetic testing along followed by investigations for the detection of bilateral, multifocal or metastatic disease, and lifelong surveillance for recurrent disease.

Source: Archives of Disease in Childhood - February 19, 2024 Category: Pediatrics Authors: Seabrook, A., Vasudevan, A., Neville, K., Gerstl, B., Benn, D., Smith, J., Kirk, J., Gill, A., Clifton-Bligh, R., Tucker, K. Tags: Original research Source Type: research