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Multiple endocrine neoplasia type 2A in an Iranian family: clinical and genetic studies

Ali Asghar Ghazi1, Mahmoud Bagheri2, Ali Tabibi3

  • 1Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran. hengamehabdi@gmail.com.

Archives of Iranian Medicine
|May 3, 2014
PubMed

Insights

This study details a rare case of Multiple Endocrine Neoplasia (MEN) type 2A in an Iranian family, identifying a specific RET gene mutation. The findings contribute to understanding MEN 2A

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Multiple Endocrine Neoplasia (MEN) type 2A is an inherited disorder.
  • It is caused by activating mutations in the RET protooncogene.
  • MEN 2A is associated with medullary thyroid carcinoma, pheochromocytoma, and hyperparathyroidism.

Observation:

  • Limited data exists on MEN type 2 in the Middle East.
  • This paper presents clinical and genetic findings of an Iranian patient and her family.
  • The patient, a 49-year-old woman, had hypertension due to bilateral pheochromocytoma and a history of medullary thyroid carcinoma.

Findings:

  • RET gene analysis revealed a C634R mutation in codon 11.
  • Three polymorphisms (G691S, S836S, S904S) were identified in codons 11, 14, and 15.
  • These genetic variations may influence the clinical presentation of MEN 2A.

Implications:

  • This study addresses the paucity of information on MEN type 2 in the Middle East.
  • It provides insights into the clinical and cytogenetic characteristics of the disease in the region.
  • The findings can aid in diagnosis and management of MEN 2A in Iranian populations.

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