MEN2A

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