{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T07:08:49Z","timestamp":1791011329967,"version":"4.1.0"},"reference-count":26,"publisher":"The Endocrine Society","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1999,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a novel case of multiple endocrine neoplasia type 2A (MEN 2A) associated with two mutations of the protooncogene RET. One affects codon 634 and causes a cysteine to arginine substitution; the second at codon 640 causes an alanine to glycine substitution in the transmembrane region. The two mutations were present on the same RET allele and were detected in germline and tumor DNA. Both mutations were de novo, i.e. they were not found in the DNA of the parents or relatives. Immunohistochemical and RT-PCR analysis showed that the pheochromocytoma expressed calcitonin as well as both RET alleles. A cell line established from the tumor and propagated in culture sustained the expression of RET and calcitonin, as did the original pheochromocytoma. Because the patient presented with medullary thyroid carcinoma and pheochromocytoma without parathyroid gland involvement, we speculate that this clinical picture could be correlated with the two RET mutations and to the unusual calcitonin production. This is the first report of a MEN 2A case due to two mutations of the RET gene and associated with a calcitonin-producing pheochromocytoma.<\/jats:p>","DOI":"10.1210\/jcem.84.10.6056","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T17:03:58Z","timestamp":1389200638000},"page":"3522-3527","source":"Crossref","is-referenced-by-count":6,"title":["A Novel Case of Multiple Endocrine Neoplasia Type 2A Associated with Two de Novo Mutations of the RETProtooncogene*"],"prefix":"10.1210","volume":"84","author":[{"given":"Alessandra","family":"Tessitore","sequence":"first","affiliation":[{"name":"Dipartimento di Biochimica e Biotecnologie Mediche e Ceinge, Centro di Ingegneria Genetica, Universita\u0300 degli Studi di Napoli Federico II (A.T., M.C., D.V., V.C.), e Istituto di Endocrinologia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio A.","family":"Sinisi","sequence":"additional","affiliation":[{"name":"Seconda Universita\u0300 di Napoli (A.A.S., D.P., A.B.), 80131 Naples"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Pasquali","sequence":"additional","affiliation":[{"name":"Seconda Universita\u0300 di Napoli (A.A.S., D.P., A.B.), 80131 Naples"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Cardone","sequence":"additional","affiliation":[{"name":"Dipartimento di Biochimica e Biotecnologie Mediche e Ceinge, Centro di Ingegneria Genetica, Universita\u0300 degli Studi di Napoli Federico II (A.T., M.C., D.V., V.C.), e Istituto di Endocrinologia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico","family":"Vitale","sequence":"additional","affiliation":[{"name":"Dipartimento di Biochimica e Biotecnologie Mediche e Ceinge, Centro di Ingegneria Genetica, Universita\u0300 degli Studi di Napoli Federico II (A.T., M.C., D.V., V.C.), e Istituto di 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