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Mucosal Neuromas

DEFINITION

Mucosal neuromas are benign tumors of nerve tissue that are a characteristic feature of multiple endocrine neoplasia type 2B (also known as MEN3), a hereditary syndrome associated with the development of medullary thyroid cancer.

APPLICATIONS IN MEDICINE

MEN syndromes comprise 3 genetically distinct familial diseases involving adenomatous hyperplasia and malignant tumors in several endocrine glands.

The genetic defect in these disorders involves the RET proto-oncogene on chromosome 10.

MEN 2B involves primarily medullary thyroid carcinoma, pheochromocytoma, multiple mucosal and intestinal neuromas, and marfanoid habitus

PROS

  • It is a benign tumor of nerve tissue on the tongue, lips and throughout the gastrointestinal tract.
  • Genetic testing is highly accurate and is done to confirm the disorder.
  • Relatives who do not carry the genetic mutation are not at risk for developing the disease and do not need to be subjected to further testing.

CONS

cons

  • The gastrointestinal (GI) symptoms of MEN2B may occur early in life. Patients experience either chronic constipation or diarrhea.
  • Feeding difficulties, dysphagia, vomiting, borborygmus, and intermittent abdominal pain may also be presen
  • Muscle, joint, and spinal problems: 95% affectedt.
  • The risk of medullary thyroid cancer in people with MEN2 is nearly 100% for all subtypes

ISSUE APPLIED IN ECUADOR

The prevalence of all MEN2 worldwide is 1 in 35,000, while in the United States, it is 1 in 30,000 to 50,000.

The epidemiology of MEN2B is unknown.

The prevalence of MEN2B is estimated to be between 1 in 600,000 to 1 in 4 million.

CONCLUSION

Multiple endocrine neoplasia (MEN) syndromes are inherited disorders that affect the endocrine system.

Mucosal neuroma is a typical phenotype of MEN 2B, one that develops mostly at birth or at around one to two years. Therefore, early detection of mucosal neuroma is a crucial part of a good prognosis

Mucosal Neuromas | NEJM. (2022). Retrieved 21 November 2022, from https://www.nejm.org/doi/full/10.1056/NEJMicm1815549

https://bmccancer.biomedcentral.com/articles/10.1186/s12885-020-07735-y

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