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.
Highlights
Multiple endocrine neoplasia (MEN) type 2A is a multiglandular tumor condition inherited in an autosomal dominant manner
We report cases of MEN 2A focusing on investigation of a Senegalese family following an index case diagnosis in Dakar [4]
Our study focused on a Senegalese family, including first-degree relatives of an index case diagnosed with MEN 2A at the Internal Medicine department of Le Dantec Teaching Hospital in 1997
Summary
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 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. Multiple endocrine neoplasia (MEN) represents a group of conditions that associate many endocrine tumors They occur simultaneously or successively on a same patient in a sporadic mode or fit in a frame of family forms [1] [2]. It’s made by the association of Medullary Thyroid Cancer (MTC), pheochromocytoma and primary hyperparathyroidism (primary HPT) [3] It is an autosomal dominant inherited condition. There are relatively rare conditions that impose a family survey since the diagnosis so that to detect beginning forms and to establish a preventive strategy
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