Multiple endocrine neoplasia 2B syndrome due to codon 918 mutation: clinical manifestation and course in early and late onset disease

摘要: More than 50% of patients with typical MEN-2B have a de novo M918T germline mutation the RET protooncogene. However, even in MEN-2B, extrathyroidal manifestations can be found to differently expressed. We analyzed clinical manifestation and course 21 harboring mutation. Mean age at diagnosis was 14.2 years (range: 1–31 years). All had medullary thyroid carcinoma (MTC). At time syndrome diagnosis, oral (bumpy lips, ganglioneuroma), ocular (corneal fibers, conjunctivitis sicca), intestinal dysfunctions, musculoskeletal manifestations, pheochromocytoma were 86%, 90%, 74%, 79%, 19% patients, respectively. follow-up examination, symptoms higher frequency. Severe predominantly prepubertal onset (≤ 12 years) MTC (n = 4/10) compared late (> 0/11) (40% versus 0%; p 0.019). Although biochemical cure only four early MTC, long-term prognosis for poorer presenting (p 0.005). During mean 55.8 months 3–161 months), seven (33%) died from MTC. In conclusion, whereas most age-related, severe expressed Furthermore, who could not biochemically cured, worse that non-cured suggesting an additional pathological process younger subgroup reinforcing very high transforming vitro activity