Multiple endocrine neoplasia type 2A
(MEN-2A) is a hereditary condition associated with three primary types of tumors: medullary thyroid cancer, parathyroid tumors, and pheochromocytoma.
Besides, 2(8.0%) patients presented with severe abdominal pain, 1(4%) had asymptomatic hypercalcaemia and 1(4%) patient presented with headache and was diagnosed as parathyroid adenoma in the context of multiple endocrine neoplasia type 2A. All patients underwent parathyroidectomy.
Primary hyperparathyroidism in multiple endocrine neoplasia type 2A. J Intern Med 1995; 238: 369-73.
Multiple endocrine neoplasia type 2a
associated with cutaneous lichen amyloidosis.
The renal dysplasia-associated syndromes include Meckel syndrome, VATER association, renal coloboma syndrome, Herlyn-Werner-Wunderlich syndrome, prune belly syndrome, branchio-oto-renal dysplasia, renal-hepatic-pancreatic dysplasia, and multiple endocrine neoplasia type 2A
. (8,11-17) The VATER association is defined as vertebral defect, anal atresia, tracheoesophageal fistula, and renal dysplasia.
Germ-line mutations of the RET protooncogene in multiple endocrine neoplasia type 2A
. Nature 1993; 363: 458-460.
Indeed, the frequency of occurrence of pheochromocytoma is 0.5% in a screened population with hypertension (20),5% in a population with adrenal incidentaloma (21), and 42% in a population presenting with multiple endocrine neoplasia type 2A
and medullary thyroid cancer (22).
Therefore, despite the presence of both pheochromocytoma and hyperparathyroidism, we concluded that this patient did not have multiple endocrine neoplasia type 2a
RET proto-oncogene mutations affecting codon 790/791: a mild form of multiple endocrine neoplasia type 2A
MTC occurs in the sporadic form in ~70-80% of cases, whereas the remaining 20-30% are represented by three familial forms: multiple endocrine neoplasia type 2A
(MEN 2A), multiple endocrine neoplasia type 2B (MEN 2B), and familial MTC not associated with MEN (1).
Mutations of the RET protooncogene are associated with several disorders, including Hirschsprung disease, familial medullary thyroid carcinoma (FMTC), and multiple endocrine neoplasia type 2A
(MEN 2A) and type 2B (MEN 2B).
A linked genetic marker for multiple endocrine neoplasia type 2A
on chromosome 10.