Avidip De PGT, Deptt.

Of Surgery Medical College, Kolkata

Epidemiology
MEN 1
MEN 1: 11q13 Menin M=F (A.D.) 100% penetrance with

MEN 2
RET: 10 Tyrosine kinase M=F (A.D.) Complete penetrance for

variable expressibility

MTC
Incomplete penetrance with

variable expression for others

Genetics

MEN 1

Parathyroid
Most common (98%) endocrine abnormality
Asymmetric, multiglandular parathyroid tumors Milder hypercalcaemia, earlier age of onset

Pancreas & Duodenum

Second most common (30% to 80%)
Non-functioning pancreatic NET- most common

Gastinoma- most common functional NET

Epigastric pain, reflux esophagitis, secretory diarrhea, wt. loss

Insulinoma- Neuroglycopenia
Principal cause of mortality

Pituitary
15% to 50%
Prolactinoma- most common Ammenorrhea, galactorrhea, hypogonadism Visual disturbance Acromegaly, Cushings disease

Others
Bronchial or thymic carcinoids
Adrenocortical tumors Lipoma Ependymoma

Facial cutaneous angiofibroma

Collagenoma

Diagnosis of MEN 1
Family history Parathyroid

Serum Ca, PTH, 24hr urine Ca (?)Sestamibi, USG

NETs

24hr gastric acid secretion, Secretin test (?)CT/ CT angiography, MRI Endoscpic USG Selective catheterisation of pancreatic artery with Ca gluconate injection
Hormonal assay CT brain

Pituitary

Genetic study

MEN 2

Thyroid
MTC- hallmark of MEN 2
Multifocal, bilateral, young age Secrete Calcitonin, CEA Secretory diarrhea, flushingParaneoplastic syndromes Stridor, upper airway obstruction, hoarseness, dysphagia,

bleeding or arterial occlusion Invasion

Adrenals
Pheochromocytoma (40% to 50%)
HTN, headache, palpitation, anxiety, tremulousness Malignant HTN, stroke, MI, sudden death Malignant & extra-adrenal pheochromocytomas are

very rare

Parathyroid
10% to 35% patients with MEN 2A
Multiglandular hyperplasia Parathyroid hyperplasia in absence of

hyperparathyroidism is common in MEN 2A

Others
MEN 2A
Cutaneous lichen amyloidosis Hirschsprungs disease

MEN 2B
Mucosal neuromas Marfanoid habitus Ganglioneuromas

Megacolon

Mucosal neuromas in the tongue (MEN 2B)

Diagnosis of MEN 2
Family history MTC

Biopsy Serum Calcitonin, CEA Pentagastrin or Ca challenge test CT neck, spine Diagnostic laparoscopy (?) Annual serum Ca+PTH Annual 24hr urine catecholamine & metanephrine estimation CT/ MRI (>1 cm) Opposed phase chemical- shift MRI I131 MIBG

Parathyroid hyperplasia

Pheochromocytoma

Genetic study

THANK YOU