This is not a familial condition. In sporadic medullary cancer there is often a several month history of a thyroid mass. Fine needle aspiration (FNA) may confirm the diagnosis and the blood calcitonin is raised. The tumour is more aggressive than either papillary or follicular cancer. The management of the sporadic medullary cancer is total thyroidectomy and neck dissection and nothing less.
In the case of the familial medullary cancers over 80% of patients have an abnormality in chromosome 10 that consists of germline mutations in the RET gene. Molecular testing of relatives allows individuals to be screened and to predict who will develop cancer. This allows prophylactic surgery to be performed on children with the mutations. The familial MEN type 2A is associated with tumours in other organs (parathyroid and adrenal). The familial MEN type 2B is associated with adrenal tumours and a tall stature with long arms (Marfan habitus). Familial non-MEN is a familial form of medullary cancer with no involvement of other organs.