All Title Author
Keywords Abstract


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

DOI: 10.4236/ojemd.2018.81004, PP. 29-37

Keywords: Multiple Endocrine Neoplasia, Pedigree, RET Gene Senegal

Full-Text   Cite this paper   Add to My Lib

Abstract:

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 MEN 2A case imposes genetic survey allowing the screening of other cases in the family and the establishment of a preventive strategy.

References

[1]  Leye, A., Ndiaye, M., Bourdin, C., Leye, Y., Gueye, S., Ndiaye, N., Deguenonvo, R., Calender, A. and Moreira-Diop, T. (2009) Multiple Endocrine Neoplasia Type 2A: Diagnostic and Therapeutic Management of One Case. Dakar Médical, 54, 78-84.
[2]  Bauters, C., Leclerc, I., Wemeau, J.-L., Proye, C., Pigny, P. and Porchet, N. (2003) Multiple Endocrine Neoplasia. Recent Advances in Clinical and Genetic Diagnosis. La Revue de Médecine Interne, 24, 721-729.
https://doi.org/10.1016/S0248-8663(03)00212-1
[3]  Sipple, J.H. (1961) The Association of Pheochromocytoma with Carcinoma of the Thyroid. American Journal of Medicine, 31, 163-166.
https://doi.org/10.1016/0002-9343(61)90234-0
[4]  Diouf, B., Dia, D., Ka, M.M., et al. (1999) Description of a Case of Cacchi Ricci Disease Associated with Hyperparathyroidism in the Setting of Multiple Endocrine Disease. Dakar Médical, 44, 229-231
[5]  Benazzouz, B., Hafidi, A., Benkhira, S., Chraibi, A., Kadiri, A. and Hilal, L. (2008) C634R Mutation of the Proto-Oncongene RET and Molecular Diagnosis in Multiple Endocrine Neoplasia Type 2 in a Large Moroccan Family. Bulletin du Cancer, 95, 457-463.
[6]  Punales, M.K., Graf, H., Gross, J.L. and Maia, A.L. (2003) RET Codon 634 Mutations in Multiple Endocrine Neoplasia Type 2: Variable Clinical Features and Clinical Outcome. Journal of Clinical Endocrinology and Metabolism, 88, 2644-2649.
https://doi.org/10.1210/jc.2002-021422
[7]  Benazzouz, B., Chraibi, A., Doghmi, Y., El Bacha, S., Boutayeb, S. and Kadiri, A. (2006) Characterization of RET Proto-Oncogene C634Y Mutation in a Moroccan Family with Multiple Endocrine Neoplasia Type 2A. Annales d’Endocrinologie, 67, 21-26.
https://doi.org/10.1016/S0003-4266(06)72535-5
[8]  Yonekawa, H., Sugitani, I., Fugimoto, Y., Arai, M. and Yamamoto, N. (2007) A Family of Multiple Endocrine Neoplasia Type 2A (MEN 2A) with Cys 630 Tyr RET Germline Mutation Report a Case. Endocrine Journal, 54, 531-535.
https://doi.org/10.1507/endocrj.K06-145
[9]  Niccoli-Sire, P. and Conte-Devolx, B. (2007) Multiple Endocrine Neoplasia Type 2. Annales d’Endocrinologie, 68, 317-324.
https://doi.org/10.1016/j.ando.2007.04.005
[10]  Petr, E.J. and Else, T. (2016) Genetic Predisposition to Endocrine Tumors: Diagnosis, Surveillance and Challenges in Care. Seminars in Oncology, 43, 582-590.
https://doi.org/10.1053/j.seminoncol.2016.08.007
[11]  Conte-Devolx, B., Niccoli-Sire, P. and Endocrine Tumor Study Group (2010) Clinical Characteristics of Multiple Endocrine Neoplasia. Bulletin de l’Academie Nationale de Medecine, 194, 69-79.
[12]  Verga, U., Fugazzola, L., Cambiaghi, S., et al. (2003) Frequent Association between MEN 2A and Cutaneous Lichen Amyloidosis. Clinical Endocrinology, 59, 156-161.
https://doi.org/10.1046/j.1365-2265.2003.01782.x

Full-Text

comments powered by Disqus

Contact Us

service@oalib.com

QQ:3279437679

微信:OALib Journal