| General information | Literature | Expression | Regulation | Mutation | Interaction |
Basic Information | |
|---|---|
Gene ID | 10111 |
Name | RAD50 |
Synonymous | NBSLD|RAD502|hRad50;RAD50 homolog (S. cerevisiae);RAD50;RAD50 homolog (S. cerevisiae) |
Definition | DNA repair protein RAD50 |
Position | 5q31 |
Gene type | protein-coding |
Cancer type | Abstract |
| Sporadic phaeochromocytoma;unclassified | Sporadic phaeochromocytoma is an infrequent tumour during paediatric age and mayor may not be associated with specific autosomal dominant inherited cancer syndromes such as multiple endocrine neoplasia type 2 (MEN2), von Hippel-Lindau syndrome (VHL) type 2 or neurofibromatosis (NF) type 1. We report two cases of benign, adrenal, and unilateral phaeochromocytoma that clearly demonstrate the clinical and molecular heterogeneity of this disease during the paediatric period. The first patient presented a characteristic symptomatic form of sporadic phaeochromocytoma. The second patient, an incidental finding, was practically asymptomatic and had a de novo germline point mutation in the VHL gene (Arg167Trp). The frequency of de novo mutations in susceptible genes (especiallythe VHL gene) in paediatric patients with sporadic phaeochromocytoma and the elevated mortality of these cancer syndromes suggest that screening for mutations should be performed even in cases of non-familial sporadic phaeochromocytoma. |