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Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene

M Peppa, Endocrine Unit, Second Department of Internal Medicine-Propaedeutic, Research Institute and Diabetes Center, Athens University Medical School, "Attikon" University Hospital, Athens, Greece, Athens, Greece
E Boutati, Second Department of Internal Medicine-Propaedeutic, Research Institute and Diabetes Center, Athens University Medical School, "Attikon" University Hospital, Athens, Greece, Athens, Greece
V Pikounis, Endocrine Unit, Second Department of Internal Medicine-Propaedeutic, Research Institute and Diabetes Center, Athens University Medical School, "Attikon" University Hospital, Athens, Greece
G Peros, Fourth Department of Surgery, Athens University Medical School, "Attikon" University Hospital, Athens, Greece, Athens, Greece
S Kamakari, BioGenomica, Center for Genetic Research and Analysis, Athens, Greece, Athens, Greece
I Panayiotides, Second Department of Pathology, Athens University Medical School, "Attikon" University Hospital, Athens, Greece, Athens, Greece
T Economopoulos, Second Department of Internal Medicine-Propaedeutic, Research Institute and Diabetes Center, Athens University Medical School, "Attikon" University Hospital, Athens, Greece, Athens, Greece
S Raptis, Second Department of Internal Medicine-Propaedeutic, Research Institute and Diabetes Center, Athens University Medical School, "Attikon" University Hospital, Athens, Greece, Athens, Greece
D Hadjidakis, Endocrine Unit, Second Department of Internal Medicine-Propaedeutic, Research Institute and Diabetes Center, Athens University Medical School, "Attikon" University Hospital, Athens, Greece, Athens, Greece

Correspondence: Vasilios Pikounis, Email: bpikounis{at}yahoo.gr

Abstract

Abstract

Introduction : Multiple endocrine neoplasia type 2A is an autosomal dominant hereditary disorder, associated with a cluster of germline gain-of-function mutations of the RET proto-oncogene (RET), mainly in exons 10-15. The G533C mutation in exon 8 of the RET is rare and has been mainly related to the familial medullary thyroid carcinoma (FMTC).

Patients-Methods: We describe the RET G533C mutation in exon 8 of the RET in 2 unrelated female index patients, with MEN2A phenotype, consisting of pheochromocytoma (PHEO) which was the presenting feature and medullary thyroid carcinoma (MTC). In addition, twelve family members were also studied. DNA extraction, polymerase chain reaction (PCR) and sequencing of the RET was performed in exons 7-19 and 21, following standard procedures.

Results: The mutation was found in both index patients and in 6 out of 12 family members (50%). Three of them were biochemically affected with histologically proven MTC in 2 of them while there are not certain clues regarding the other 3 members as they denied further evaluation.

Conclusion: Patients with MEN2A mutations should be also searched in exon 8 while positive carriers of this mutation should be screened annually for PHEO or other components of the syndrome.