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Revista Médica del Uruguay

On-line version ISSN 1688-0390


LARRANDABURU, Mariela; VAGLIO, Alicia; QUADRELLI, Andrea  and  QUADRELLI, Roberto. Neoplasia endocrina múltiple tipo 1. Presentación de una familia afectada con diagnóstico molecular. Rev. Méd. Urug. [online]. 2008, vol.24, n.3, pp.203-211. ISSN 1688-0390.

Summary Multiple endocrine neoplasia type 1(MEN1) comprises a variable combination of over 20 endocrine and non-endocrine tumors, with Mendelian autosomal dominant inheritance. The patient, who had a family history of tumors, was seen, at age 39, due to a mediastinal tumor and neoplasm at the head of the pancreas. We performed clinical diagnosis of MEN1, and we had the collaboration of a French team involved in MEN1 research. We conducted sequenciation of the MEN 1 gene and identified a single mutation in exon 10: 1596delA. The patient was informed about the relevance of performing the same study in other members of the family who were likely to carry the same pathology. Two years later, his 39-year-old sister visited the clinic, with a history of hyperparathyroidism, calciuria, high parathyroid hormone (PTH), renal lithiasis, and who had undergone parathyroid adenoma surgery. She informed her brother had died. Given the family history, we especially studied the mutation previously found in her brother, and confirmed the MEN1 diagnosis. Thus, the patient decided to learn about the molecular status in her two asymptomatic daughters, whereby no mutations were identified. The present study illustrates the benefit of diagnosis, requiring high cost technology (sequenciation) through a collaborative study, which enables other members of a family to learn about their molecular definition. We stress the importance of genetic counseling to make a decision regarding the conduction of molecular diagnosis in asymptomatic individuals and the relevance of early diagnosis to define the follow-up protocol for these patients.


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