ECE2022 Eposter Presentations Endocrine-Related Cancer (61 abstracts)
A NEM 2A with mutation in a gene outside panel ROTERC
Mohamed Abdellahi Mohamed Ahmed 1 , Nabila Mejdoub 1 , Guidara Souhir 2 , Dhoha Ben Salah 1 , Mouna Mnif 1 , Faten Haj Kacem Akid 1 & Mohamed Abid 1
1Department of Endocrinology and Diabetology CHU Hedi Chaker Sfax, Tunisia; 2Faculty of Science, Sfax
Introduction: Multiple endocrine neoplasia type 2 is an inherited syndrome characterized by the characteristic combination of medullary thyroid cancer, pheochromocytoma and primary hyperparathyroidism. We report one case with phenotype-genotype mismatch.
Observation: Patient A. T is 45 years of age with a family history of thyroid bone marrow cancer (CMT) and sister brain cancer, father colon cancer, with no personal history of disease. A 60 mm long-axis left adrenaloma during a nephretic colic test with 4* normal urinary metanephrins. The diagnosis of primary hyperparathyroidism was raised in the presence of hypercalcemia: 2.9 mmol/l, Phosphoremia: 0.7 mmol/l and confirmed by normal PTH *. The topographic assessment concluded a parathyroid adenoma and a multinodular goiter. The absence of medullary thyroid cancer (CMT) decreased the probability of NEM2A but this is still possible. The patient received a left adrenalectomy. A The genetic study did not reveal any pathogenic variant or VSI.
Discussion-Conclusion: The association of pheochromocytoma, hyperparathyroidism and multinodular goiter, as well as the family history of CMT and cerebral cancer in the sister and colon cancer in the father, suggested a mutation that does not belong to the ROTERCC panel. Our observation attested to the value of conducting a genetic study for personalized medical care of patients and for establishing genetic counseling for patients and their families.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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