Home > D. Systemic pathology > Genetic and developmental anomalies > MEN2A
MEN2A
Monday 31 January 2005
Digital cases
Case 141 (HPC:141) : Thyroid C cell hyperplasia in MEN2a
Definition: Multiple endocrine neoplasia type IIA (MEN2A) is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma, pheochromocytoma, and parathyroid adenomas.
Synopsis
C-cell hyperplasia
- nodular C-cell hyperplasia
- diffuse C-cell hyperplasia
medullary thyroid carcinoma (MEN2-associated MTC)
bilateral pheochromocytomas
primary hyperparathyroidism
adrenal ganglioneuroma (15827098)
Hirschsprung disease (digestive aganglionosis)
cutaneous lichen amyloidosis
Cushing syndrome
hypertension
C-cell hyperplasia
parathyroid adenoma
Etiology
germline RET mutations
Associations
renal dysplasia
- RET 634 mutation (12606135)
References
Marx SJ. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer. 2005 May;5(5):367-75. PMID: 15864278