401.2 📚 國考版（醫師國考 / PGY OSCE）

---

401.2.0.1 📌 Cram Sheet

401.2.0.1.1 🔥 高 yield 15

1. MEN1 (Werner) menin → 3 P: parathyroid + pituitary + pancreas NET
2. MEN2A (Sipple) RET → MTC + pheo + parathyroid
3. MEN2B RET (M918T) → MTC + pheo + mucosal neuroma + Marfanoid + GI
4. MEN1 parathyroid 90% (4-gland; subtotal parathyroidectomy)
5. MEN1 pituitary 40% (prolactinoma 多)
6. MEN1 pancreas 30-70% (gastrinoma 40%, insulinoma 10%, NF most)
7. MEN2A prophylactic thyroidectomy by 5 yr (codon 634)
8. MEN2B prophylactic thyroidectomy by 1 yr (M918T)
9. MEN2 pre-op pheo rule out (always)
10. VHL: hemangioblastoma + RCC + pheo + pancreatic NET; belzutifan (22E)
11. NF1: neurofibroma + Lisch + café-au-lait + optic glioma + pheo
12. Carney complex (PRKAR1A): cardiac myxoma + endocrine
13. McCune-Albright (GNAS mosaic): fibrous dysplasia + café-au-lait + endocrine excess
14. SDHB → highest metastatic pheo risk
15. Genetic testing + cascade for all suspected

401.2.0.1.2 🔢 必背

項目	數字
MEN1 parathyroid	90%
MEN1 pituitary	40%
MEN1 pancreas	30-70%
MEN2A MTC	~100%
MEN2A pheo	~50%
MEN2A parathyroid	20-30%
MEN2B MTC	~100% (aggressive)
MEN2B prophylactic thyroidectomy	by 1 yr
MEN2A prophylactic thyroidectomy	by 5 yr
VHL RCC	~70% lifetime
NF1 pheo	1-5%

---

401.2.0.2 ⭐ 高 yield

401.2.0.2.1 MEN Comparison

	MEN1	MEN2A	MEN2B
Gene	MEN1 (menin)	RET	RET (M918T)
Mutation type	Loss-of-function	Gain-of-function	Gain-of-function
Parathyroid	+ (4-gland, 90%)	+ (20-30%)	−
Pituitary	+ (40%)	−	−
Pancreas NET	+ (30-70%)	−	−
MTC	−	+ (~100%)	+ (~100%, aggressive)
Pheo	−	+ (~50%)	+ (~50%)
Mucosal neuroma	−	−	+
Marfanoid	−	−	+
Hirschsprung	−	+ (rare)	+ (rare)
Prophylactic thyroidectomy	NA	by 5 yr	by 1 yr

401.2.0.2.2 MEN-Related Comparison

Syndrome	Gene	Key features
VHL	VHL	Hemangioblastoma + RCC + pheo + pancreas NET
NF1	NF1	Neurofibroma + café-au-lait + Lisch + optic glioma + pheo
Carney	PRKAR1A	Cardiac myxoma + skin pigmentation + endocrine
McCune-Albright	GNAS mosaic	Fibrous dysplasia + café-au-lait + endocrine excess
Familial paraganglioma	SDHx	Multiple PGL; SDHB malignant
Familial isolated hyperPTH	CDC73	Parathyroid CA + jaw tumor
Cowden	PTEN	Breast + thyroid + endometrial + GI hamartoma
Peutz-Jeghers	STK11	Mucocutaneous pigment + GI hamartoma + multiple cancer
Familial PTC + cribriform-morular	APC	(FAP variant) thyroid CA
DICER1	DICER1	Multinodular thyroid + ovary + lung

401.2.0.2.3 Surveillance Quick (MEN1)

• Annual: Ca, iPTH, prolactin, IGF-1, gastrin (off PPI), CgA
• Q1-3 yr: pituitary MRI, pancreatic imaging (EUS or DOTATATE PET)
• Q1-2 yr: chest CT (thymic carcinoid in men)
• Lifelong, starting age 8 (some markers earlier)

401.2.0.2.4 Surveillance Quick (MEN2)

• Annual catecholamine + metanephrine (pheo)
• Annual Ca + iPTH (MEN2A only)
• Calcitonin + CEA (post-thyroidectomy trend)
• US neck if not yet done thyroidectomy

---

401.2.0.3 🎯 自我檢測

1. MEN1 gene? → MEN1 (menin)
2. MEN1 3 P? → Parathyroid + pituitary + pancreas
3. MEN1 most common? → Parathyroid (90%, 4-gland)
4. MEN1 pituitary 多? → Prolactinoma
5. MEN2A gene? → RET
6. MEN2A 3 components? → MTC + pheo + parathyroid
7. MEN2B vs 2A? → 2B mucosal neuroma + Marfanoid + no parathyroid
8. MEN2B prophylactic thyroidectomy? → by 1 yr
9. MEN2A high-risk codon thyroidectomy? → by 5 yr (634)
10. MEN2 pre-op必查? → Pheo rule out
11. VHL 4 features? → Hemangioblastoma + RCC + pheo + pancreas NET
12. VHL drug? → Belzutifan (HIF-2α)
13. NF1 5 features? → Neurofibroma + Lisch + café-au-lait + optic glioma + pheo
14. Carney complex gene? → PRKAR1A
15. SDHB pheo risk? → Highest metastatic

---

⚠️ AI 草稿。