Multiple Endocrine Neoplasia in Children and the Importance of Screening: Part 2

VHL is another type of multiple endocrine neoplasia, and is inherited in an autosomal dominant manner like MEN1. Some families may have the VHL diagnosis without genetic testing, due to two or more clinical manifestations having been noted. The gene mutation is located at 3q26–25, so the long arm of chromosome 3, locus 26–25. The most common tumours identified within this syndrome are retinal and central nervous haemangioblastomas, renal cancers, renal, pancreatic and epididymal cysts, phaeochromocytomas and paragangliomas (Maher, Neumann, & Richard, 2011).
VHL disease can be classified into subtypes, relating to whether there are phaeochromocytomas present. Clinical presentation can manifest usually in adulthood (Prasad et al., 2011), but can also present much earlier in childhood, resulting in the need for a screening protocol as seen in Table 1.