Multiple Endocrine Neoplasia (MEN) Syndromes😍

Multiple Endocrine Neoplasia (MEN) Syndromes

Syndrome	Mutation/Protein
MEN 1 (Wermer Syndrome) [NOTE: Werner → Progeria]	• Menin Gene on chromosome 11q13 • Mnemonic: PA - one 'P' & one 'A' per line • Mnemonic: 1 Man → in (menin) Kalyanam → Papapa Features 1. Anterior Pituitary Adenoma → Prolactinoma (m/c type) 2. Parathyroid Hyperplasia (MC - 95%) 3. Pancreatic Tumours/Cancers (Zollinger ellison) 4. Tymic tumors, Collagenoma and Adrenal cortical tumors NOTE • Most common pancreatic tumor in MEN 1→ Gastrinoma • (But overall most common is Non functional > Insulinoma)
MEN 2A (Sipple Syndrome)	• RET mutation on chromosome 10 • RET 10 MED MEN 2 SIPPLE • Exon 634 (2 x 3 = 6) Features • PA: Parathyroid Hyperplasia  • ME: Medullary Carcinoma Thyroid (m/c). • FEE: Pheochromocytoma  • (Mnemonic: PA → Give Me FEE) • + Megacolon
MEN 2B/MEN 3 A/w 1. Cutaneous lichen amyloidosis 2. Hirschsprung's disease	• RET mutation • Exon 918 (3 x 3 = 9) Features • MUMA: Mucosal Neuromas, Marfanoid Habitus • ME: Medullary Carcinoma Thyroid  (m/c, most aggressive). • FEE: Pheochromocytoma  • (Mnemonic: MuMa → Give Me FEE) • Megacolon Note: ◦ Most aggressive MTC. ◦ Seen in young patients. ◦ Multifocal.
MEN 4/MEN X	Cyclin Dependent Kinase N1B (CDKN1B) gene mutation → on chromosome 12 → ↓↓ level of P27 Features: • Pituitary/parathyroid adenomas,  • renal tumors, • adrenocortical tumors, • reproductive organ tumors.
MTC Only	• Exon 618
MEN 5	• MAX gene • Chromosome 14

• MEN 2A (Sipple Syndrome) → 618 and 634 EXON
• Low risk
• Prophylactic thyroidectomy by 5-6 years of age

• MEN 2B/MEN 3 → 918 EXON
• High risk
• Prophylactic thyroidectomy by 1 years of age