Management of Multiple Endocrine Neoplasia Type 2A (MEN 2A): Diagnostic and Therapeutic Concerns with the First Documented Senegalese Family

作     者：Abdoulaye Leye Ngone Diaba Diack Michel Assane Ndour Nafy Ndiaye Yakham Mohamed Leye Biram Codou Fall Malick Ndiaye Abdoul Karim Daher Ahmed Tall Lemrabott Boucar Diouf 

作者机构：Internal Medicine/Endocrinology department. Teaching Hospital of Pikine/Dakar ENT Department. Fann Teaching Hospital/Dakar Nephrology Department. Le Dantec Teaching Hospital 

出 版 物：《Open Journal of Endocrine and Metabolic Diseases》 (内分泌与新陈代谢疾病期刊（英文）)

年 卷 期：2018年第8卷第1期

页      面：29-37页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：Multiple Endocrine Neoplasia Pedigree RET Gene Senegal 

摘      要：Introduction: Multiple endocrine neoplasia (MEN) type 2A is a multiglandular tumor condition inherited in an autosomal dominant manner. It is related to proto-oncogene RET mutation whose analysis is the best technique for family screening. It features in a variable way medullary thyroid cancer (MTC), primary hyperparathyroidism (HPT) and pheochromocytoma. The revealing manifestations of these tumors are often neglected for a long time and the screening should be systematic particularly in a known family context. Methods: After a family tree establishment of a MEN 2A index case, a family survey allowed to diagnose other cases in the family by means of biological, radiological and/or genetic examinations. Results: We report a family form of MEN 2A in a family of three households. In this family 13 people (index case included) were probed out of 34 members. The average age of our patients was 43.54. The sex ratio men/women was 0.85. The simultaneous diagnosis of a primary HPT and a MTC was carried out in our index case and constituted the circumstance of discovery of MEN 2A. The time limit of MEN 2A diagnosis on the other family members was on average 7.7 years. A MTC was recorded in 7 patients. It was asymptomatic in overall cases. A pheochromocytoma was present in only one patient. Primary HPT was found in four patients. Renal lithiasis with recurrent unilateral or bilateral nephritic colic attacks was the main manifestation. Besides the index case, 11 patients had a genetic testing. In 7 patients, a mutation on proto-oncogene RET located on the codon 634 was noted. A surgical care was carried out on 6 patients. We recorded three patients lost to follow-up. A patient died before surgery. In the index case, biological and radiological monitoring found a locoregional residual disease that indicated surgical revision and radiotherapy. Prophylactic thyroidectomy was not performed in any case driven by lack of compliance and/or low income. Conclusion: The discovery of a M