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Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India
Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India
Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India

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Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India

Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India

Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India

Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India

Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India

Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India




Multiple Endocrine Neoplasia Type 2

Overview

Multiple endocrine neoplasia, type 2B (MEN 2B) is an autosomal dominant syndrome characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus. Symptoms depend on the glandular elements present. Diagnosis and treatment are the same as for MEN 2A.

Ninety-five percent of MEN 2B cases result from a single amino acid substitution in the RET protein. More than 50% are de novo mutations and thus appear to be sporadic rather than familial.

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Symptoms and Signs

Symptoms and signs reflect the glandular abnormalities present  About 50% of patients have the complete syndrome with mucosal neuromas, pheochromocytomas, and medullary thyroid carcinoma (MTC). Fewer than 10% have neuromas and pheochromocytomas alone, whereas the remaining patients have neuromas and medullary carcinoma of the thyroid without pheochromocytoma.

Often, mucosal neuromas are the earliest sign, and they occur in most or all patients. Neuromas appear as small glistening bumps on the lips, tongue, and buccal mucosa. The eyelids, conjunctivae, and corneas also commonly develop neuromas. Thickened eyelids and diffusely hypertrophied lips are characteristic. GI abnormalities related to altered motility (constipation, diarrhea, and, occasionally, megacolon) are common and thought to result from diffuse intestinal ganglioneuromatosis. Patients may have a marfanoid habitus. Skeletal abnormalities of the spine (lordosis, kyphosis, scoliosis), pes cavus, and talipes equinovarus are common.

MTC and pheochromocytoma resemble the corresponding disorders in MEN 2A syndrome; both tend to be bilateral and multicentric. MTC, however, tends to be particularly aggressive in MEN 2B and may be present in very young children.

Although the neuromas, facial characteristics, and GI disorders are present at an early age, the syndrome may not be recognized until MTC or pheochromocytoma presents in later life.

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Diagnosis

  • Clinical suspicion
  • Genetic testing
  • Plasma free metanephrine or urinary catecholamine levels
  • Pheochromocytoma localization with MRI or CT

MEN 2B is suspected in patients with a family history of MEN 2B, pheochromocytoma, multiple mucosal neuromas, or MTC. Genetic testing is highly accurate and is done in 1st-degree relatives and any symptomatic family members of MEN 2B patients.

Pheochromocytoma may be suspected clinically and is confirmed by measuring plasma free metanephrines or urinary catecholamines. Laboratory testing for MTC may be done. MRI or CT is used to search for pheochromocytomas and MTC.

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Treatment

  • Surgical excision of identified tumors
  • Prophylactic thyroidectomy

Affected patients should have total thyroidectomy as soon as the diagnosis is established. Pheochromocytoma, if present, should be removed before thyroidectomy is done. Gene carriers should undergo prophylactic thyroidectomy in infancy or early childhood

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Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India

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Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India

Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India

Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India

Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India

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Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India Multiple Endocrine Neoplasia Type 2 Cancer Treatment in India
 

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