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Multiple Endocrine Neoplasia (MEN) I

Multiple Endocrine Neoplasia (MEN) I. Case Presentation. 62 y/o Female Pmhx - HTN & Cholecystectomy for biliary colic (1995) Presents to OSH for abd pain, N/V. Afeb, mild right sided abd tenderness. Elevated LFTs.

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Multiple Endocrine Neoplasia (MEN) I

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  1. Multiple Endocrine Neoplasia (MEN) I

  2. Case Presentation 62 y/o Female • Pmhx - HTN & Cholecystectomy for biliary colic (1995) • Presents to OSH for abd pain, N/V. Afeb, mild right sided abd tenderness. Elevated LFTs. • ERCP performed for presumed retained stone – sphincterotomy w/ stent placement. • Post ERCP cont abd pain & developed MI

  3. Transferred to MSH for cardiac cath/stent • post – cath cont abd pain – GI workup begun • 9/4 CT …

  4. Biochemical w/u for pheochromocytoma found to be neg (nl urine catecholamines & nl normetanephrine / metanephrine) • Biochemical w/u for poss neuroendocrine pancreatic lesion – gastrin mild elev. (172/111); mild elev. chromogranin A (38/18); nl glucagon • Pt also at this time reported FMHx of multiglandular hyperparathyroid in mother; labs drawn –hypercalcemic, elevated PTH; elevated prolactin • Head CT negative – pt not candidate for MR (metal stent)

  5. 9/9 SBS negative • 9/11 & 9/12 Capsule endoscopy performed – capsule held up in antrum of stomach – EGD removal of capsule and placement of second capsule in duodenum • Surgery consulted – N/V; Afeb normal VS; lower abdominal tenderness, nl lactate, mild levated WBC (12-13) • 9/14 repeat CT showed

  6. metallic density in RLQ – capsule; cont wall thickening • 9/17 Pt to OR for Small bowel resection/retrieval of capsule

  7. Pathology – Segment of sm bowel w/ ischemic necrosis & carcinoid tumor (1cm) extending into muscularis propria

  8. MULTIPLE ENDOCRINE NEOPLASIA: MEN I SYNDROME

  9. Contents • 1. Parathyroid disease • 2. Anterior Pituitary Adenomas • 3. Entero-pancreatic tumors: Insulinomas Gastrinomas Glucagonomas VIPomas Somatostatinomas Pancreatic Polypeptide-Producing tumors Rare Islet Cell tumors Surgical Therapy • 4. Other tumors

  10. What is MEN–1 ? • AD disorder on chromosome 11 • Consensus recommends that MEN- 1 defined as 2/3 main MEN-1 tumor types • Familial MEN-1 is at least one MEN-1case plus first degree relative w/ 1/3 tumors

  11. Primary Hyperparathyroidism • ~ 100% penetrance – earliest / most common manifestation • 1-2 % all hyperparathyroidism is MEN-1 • Multiglandular involvement (unlike sporadic hyperPTH w/ single gland adenoma) Diagnosing: • Clinically - Stones, bones, groans, mental overtones • Diagnosis – Biochemical =hypercalcemia w/ hi serum PTH • Imaging – sestamibi & bone densitometry

  12. Primary Hyperparathyroidism • Indications for surgery: • Symptomatic or marked hypercalcemia • Nephrolithiasis • Diminished bone density / osteopenia • ** Presence of severe gastric ulcers 20 to gastrinoma (hypercalcemia inc release of gastrin & worsens hypergastrinemia and parathyroidectomy reduces gastrin secretion** -- however PPI’s work well

  13. Therapy for Primary Hyperparathyroidism • Subtotal parathyroidectomy (removal of 3.5) with transcervical near-total prophylactic thymectomy • Parathyroid remnants in situ OR autograft implanted into forearm • Endoscopic parathyroidectomy not appropriate b/c difficulty in identifying all four glands

  14. Primary Hyperparathyroidism (cont) Complications of Parathyroid Surgery: • Temporary hypocalcemia common • 4% risk permanent hypoPTH, 30% risk persistent/recurrent hyperPTH • Graft function successful in >90% of autotransplantations • High rate of recurrence after successful surgical therapy unlike sporadic 67% @ 8yrs

  15. Anterior Pituitary tumors • Prevalence in MEN-1 ranges 15-60% in different series • First clinical manifestation in up 25% of cases • Two-thirds are microadenomas (<1cm) • Prolactinomas 60%, somatotrophinomas 20%, corticotrophinomas and null cell tumors 15% • Pt p/w sx of amenorrhea, galactorrhea, infertility, impotence in men; acromegaly or cushing’s disease • Monitor PRL, IGF-1 • CT/MRI • Trans-sphenoidal resection of pituitary tumor

  16. Entero-pancreatic tumors Gastrinomas Insulinomas Glucagonomas VIPomas Somatostatinomas Pancreatic Polypeptide-Producing tumors

  17. Entero-pancreatic tumors • Prevalence ranges from 30-75% • Lesions tend to be multicentric • Micro/macroadenomas -> invasive -> metastaic carcinoma • As a result of the effective rx available for parathyroid & pituitary maifestations in MEN-1 the malignant potential of these entero-pancreatic lesions is now the primary life threatening manifestation of the syndrome.

  18. Gastrinoma • Most common – represent 50% of all entero-pancreatic tumors in MEN1 tend to be small & multiple lesions • MEN1 gastrinomas mostly in duodenum, 50% metastasized at Dx • Poor prognosis w/ pancreatic (not duodenal); mets; & higher gastrin level • Biochemical diagnosis incl: hypergastrinemia, mult peptic ulcers & hi gastric acid output • Imaging – octreotide scan, EGD U/S, CT/MRI & portal venous sampling MEDICAL TREATMENT: • PPI’s - Omeprazole

  19. Gastrinoma (cont) SURGICAL TREATMENT: • For solitary sporadic gastrinoma - complete resection • MEN1 gastrinomas freq mult/mets – controversial role of surgery • Intraop US • “Gastrinoma triangle” –pancreas/duodenum/CBD • Duodenotomy • Tumors head pancreas-enucleated • Tumors body/tail pancreas – distal pancreatectomy +- splenectomy • Liver mets- wedge resection

  20. Norton et al. 1999 NEJM

  21. Gastrinoma (cont) METASTATIC GASTRINOMA: • 25-90% of ZE patients • ChemoRx – streptozocin & 5 FU • Hepatic arterial chemoembolization • Octreotide • Interferon  • Aggressive debulking surgery

  22. Insulinoma • Pt p/w hypoglycemia after fast/exertion; sx improve w/ glucose intake & inappropriately elevated insulin • 90% solitary and benign • head, body and tail pancreas • Malignancy - size > 6cm or liver/nodal mets MEDICAL TREATMENT: • Control Sx prior to surgery • Frequent small CHO meals until operated on • Octreotide

  23. Insulinoma (cont) SURGICAL TREATMENT: • Mainstay • Precise identification w/ intraop ultrasound • Large malignant tumors or adjacent to vital structures - distal pancreatectomy or Whipple’s pancreaticoduodenectomy

  24. Insulinoma (cont) SURGERY FOR MALIGNANT INSULINOMA : • Curative • Whipple’s or subtotal pancreatectomy-splenectomy, excision of liver metastases • Palliation for metastatic disease • ChemoRx • Chemo-embolization • Alcohol injection, cryotherapy, radiofrequency ablation COMPLICATIONS of SURGICAL TREATMENT: • Abscess • Fistula • Pseudocyst • Wound infection

  25. Glucagonoma • Necrolytic migratory erythema • Hypoaminoacidaemia, Type II DM, muscle wasting, cachexia, DVT/PE • Tail of Pancreas most common site • Surgical removal is treatment of choice • However, 50-80% w/ mets at time of diagnosis • Optimize medical conditions, TPN, octreotide • ChemoRx - 5FU, streptozotocin, dacarbazine

  26. VIPoma • Vasoactive Intestinal Peptide tumors • Watery diarrhoea, hypokalaemia, achlorhydria (=WDHA), hypovolaemia, dehydration • 5-10 litres stool/day • correct dehydration • Surgical management w/ distal pancreatectomy curative

  27. Somatostatinoma • Duodenum/pancreas • Steatorrhoea, cholelithiasis, type II DM, hypochlorhydria • Medical problems – hyperglycaemia, malnutrition • Resect primary and debulk hepatic mets • Cholecystectomy

  28. Pancreatic Polypeptide-Producing tumors • Non-functioning • Malignant and large at time of Dx • Extrahepatic bile duct obstruction, GI bleeding, GI obstruction • Surgical resection • chemoRx for residual disease

  29. Other tumors CARCINOID: • 3% of MEN1 – bronchi, gi tract, pancreas, or thymus • Mostly asymptomatic no signs of carcinoid syndrome ADRENOCORTICAL LESIONS: • 20-40% MEN1 • Usually bilateral, hyperplastic, non-functional • No consensus on management of these lesions

  30. Other tumors BENIGN THYROID tumorS LIPOMAS • Cutaneous and visceral • Up to 1/3 of MEN1 patients • Tend not to recur once excised CNS EPENDYMOMAS COLLAGENOMAS, ANGIOFIBROMAS

  31. MULTIPLE ENDOCRINE NEOPLASIA: MEN I SYNDROME - Autosomal dominant disorder caused by loss of a tumor suppressor gene on chromosome 11. 1. Parathyroid hyperplasia or adenoma  Ca++ & renal calculi. 2. Pituitary adenoma: MC prolactinoma, also GH & ACTH (Cushing’s disease) producing tumors 3. Entero-pancreatic tumors  excessive secretion of: - gastrin peptic ulcers (Zollinger-Ellison syndrome), - insulin  hypoglycemia - serotonin (carcinoid syndrome) - VIP (vasoactive intestinal polypeptide) watery diarrhea

  32. References • Guideline for Diagnosis and Therapy of MEN Type 1 and Type 2 – Consensus. Journal of Clinical Endocrinology & Metabolism. 86(12):5658-71, 2001 Dec. • Gauger PG, Thompson NW. Early Surgical Intervention and strategy in patients with multiple endocrine Neoplasia Type 1. Best Practice and Research Clinical Endocrinology & Metabolism. 15(2):213-223, 2001 • Veldhuis et al. Therapeutic Controversy. Surgical Versus Medical Management of Multiple Endocrine Neoplasia Type 1. Journal of Clinical Endocrinology and Metabolism. 82(2):357-364 • Burgess et al. The outcome of subtotal thyroidectomy for treatment of hyperparathyroidism in MEN-1. Arch Surg 1998;133:126.

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