ETA2022 Oral Presentations Oral Session 9: Thyroid Cancer Clinical (5 abstracts)
The phenotype correlated with RET V804 germline mutation is characterized by the presence of medullary thyroid cancer alone
Cristina Romei 1 , Teresa Ramone 2 , Roberta Casalini 3 , Raffaele Ciampi 4 , Antonio Matrone 5 , Virginia Cappagli 6 , Valeria Bottici 7 , Eleonora Molinaro 8 & Rossella Elisei 9
1Endocrine Unit, University of Pisa, Department of Clinical and Experimental Medicine, Pisa, Italy; 2Dep of Clin and Exp Medicine, University of Pisa, Department of Clinical and Experimental Medicine, Endocrinology Unit, University of Pisa, Pisa, Italy; 3, University of Pisa, Department of Clinical and Experimental Medicine, Italy; 4Department of Clinical and Experimental Medicina, Endocrinology Unit, University of Pisa, University of Pisa, Department of Clinical and Experimental Medicine, Endocrinology Unit, Pisa, Italy; 5Department of Clinical and Experimental Medicine, Unit of Endocrinology, University Hospital of Pisa; 6Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy; 7University of Pisa, Department of Clinical and Experimental Medicine, Endocrine Unit, Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy, Department of Clinical and Experimental Medicine, Endocrinology Unit, University of Pisa, Italy, Pisa, Italy; 8University of Pisa, Endocrinology Unit, Department of Endocrinology, Pisa, Italy; 9Oncology Section of the Endocrine Unit, Dept of Clin and Exp Medicine, University Pisa, Pisa, Italy
Background: Genotype-phenotype correlations between various RET mutations and clinical manifestations of MEN 2 syndrome are well established. A discussion is still open if the FMTC phenotype really exists or if it is just a MEN2A variant. Aim of this study was to verify if the phenotype corresponding to the V804M germline mutation is restricted to FMTC.
Methods: During the last 25 years, we have identified 200 families with a hereditary form of MTC and 993 subjects have been studied for the presence of a RET germline mutation. Among these families, 43 had a Cys634 mutation, 32 had a Cys mutation in exon 10, 15 had the M918T mutation and 110 cases had a RET mutation at non cysteine codons. Among these latter 54 families had a V804M/l germline mutation. All patients were annually submitted to clinical and biochemical examinations (e.g., abdomen ultrasound, plasma and urinary epinephrine and norepinephrine, serum parathyroid hormone, vitamin D and calcium measurements) to ascertain any parathyroid and adrenal gland involvement.
Results: A total of 226 subjects have been screened: 54 subjects were index cases, 97 were RET gene carriers and 75 were negative for the presence of any RET germline mutation. Only 3 families showed the presence of additional endocrine neoplasia. In one family there was 1 subject with hyperparathyroidism that was cured with the surgical removal of one single parathyroid adenoma. In another family, a second germline mutation of TMEM127 was found correlating with the presence of pheochromocytoma even in family without RET germline mutations. The third family showed several cases with both MTC and pheochromocytoma but the genetically analysis did not find any other gene alteration in genes commonly involved in familial pheochromocytoma. However, the genealogic tree clearly showed a strict segregation of MTC and pheochromocytoma in one branch of the family while the other had only MTC.
Conclusions: These data strongly support the possibility that in these 3 families MTC was incidentally associated with other endocrine neoplasia. If this the case, the V804 mutation correlates with FMTC and there is no reason to screen gene carriers for pheochromocytoma and hyperparathyroidism.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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