Galesanu, C.1; Sandru, A-I1; Niculescu, D. 2; Apostu, L.3
1 Endocrinology, University of Medicine and Pharmacy ”Grigore T. Popa”, Iasi, Romania
2 Surgery, University of Medicine and Pharmacy ”Grigore T. Popa”, Iasi, Romania
3 Clinical Biochemistry, University of Medicine and Pharmacy ”Grigore T. Popa”, Iasi, Romania
Background: Almost all patients with Multiple Endocrine Neoplasia, type 2A (MEN 2A) have MTC. C-cell hyperplasia develops early in life and can be viewed as the precursor lesion for MTC. Children with MEN2A who have a total early thyroidectomy have an excellent chance of remaining disease-free.
Objectives: To follow-up the children with RET mutation in a family with MEN2A.
Methods: We report a family with MEN2A in which the first patient had bilateral pheochromocytoma associated with MTC. Molecular genetic testing of the RET exon confirmed the mutation at codon 634(Cys634Trp) in RET exon 11.We screened all her family members; six had the same RET proto-oncogene mutation; four females and two children. A boy had normal level of calcitonin (identiphied with RET mutation at two months), his mother developed MTC during pregnancy. The second boy-ten years old had high level of calcitonin; his mother had MTC and bilateral pheochromocytoma. Monitoring the children to every 6 months : physical neck examination and neck ultrasound, blood tests of calcitonin and CEA.
Results: In our group, the boy who was diagnosed at 2 months with RET mutation has been prophylactic thyroidectomies at 7 years. He presented two areas of C-cell hyperplasia. The second boy who now has 17 years has high values of calcitonin and CEA, and parents refuse the surgical excision.
Conclusion: At the child presented by us, parents delaying the agreement for thyroidectomy, and this could result in the development of the MTC.