{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T14:46:38Z","timestamp":1792161998411,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T00:00:00Z","timestamp":1595980800000},"content-version":"vor","delay-in-days":210,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005010","name":"Associazione Italiana per la Ricerca sul Cancro","doi-asserted-by":"publisher","award":["21790"],"award-info":[{"award-number":["21790"]}],"id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Endocrinology"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>\n                    <jats:italic>Background<\/jats:italic>\n                    . Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by\n                    <jats:italic>RET<\/jats:italic>\n                    proto\u2010oncogene mutation. Two different clinical variants of MEN2 are known (MEN2A and MEN2B): medullary thyroid carcinoma (MTC) almost always present and associated with pheochromocytoma (Pheo), and primary hyperparathyroidism (HPTH) in MEN2A and with Pheo and other nonendocrine diseases in MEN2B.\n                    <jats:italic>Case Report<\/jats:italic>\n                    . A 7\u2010year\u2010old girl, previously treated for a pelvic plexiform neurofibroma, arrived at our observation with a peculiar MEN2B syndrome and with HPTH. The neck ultrasound showed bilateral thyroid nodules, local lymph node lesions, and a suspicious left hyperplastic parathyroid. The CT scan showed a megacolon and described the persistence of the pelvic tumor. A new\n                    <jats:italic>RET<\/jats:italic>\n                    germline deletion in exon 11 (c.1892_1899delCGAGCT; p.Glu632_Leu633del) was found. She underwent total thyroidectomy, central compartment and latero\u2010cervical lymph node dissection, and neck exploration for primary HPTH. The histology confirmed bilateral MTC, multiple lymph node metastases, a hyperplastic parathyroid, and a parathyroid adenoma.\n                    <jats:italic>Conclusions<\/jats:italic>\n                    . This is the first case of a complex syndrome characterized by peculiar features of MEN2B, without Pheo but with a pelvic plexiform neurofibroma and with HPTH, which is typical of MEN2A. A \u201cde novo\u201d new germline\n                    <jats:italic>RET<\/jats:italic>\n                    deletion located in exon 11 was found.\n                  <\/jats:p>","DOI":"10.1155\/2020\/4147097","type":"journal-article","created":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T19:40:51Z","timestamp":1596051651000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New\n                    <i>RET<\/i>\n                    Germline Deletion"],"prefix":"10.1155","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5248-4436","authenticated-orcid":false,"given":"Carlotta","family":"Giani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Ramone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Romei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Ciampi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia","family":"Tacito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Valerio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Agate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Ugolini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Marin\u00f2","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fulvio","family":"Basolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Franchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Borsari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0173-325X","authenticated-orcid":false,"given":"Angela","family":"Michelucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesare","family":"Selli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Materazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filomena","family":"Cetani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5333-9257","authenticated-orcid":false,"given":"Rossella","family":"Elisei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,29]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.11"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-010-9320-2"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2018.11.006"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/705036"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-02102"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/s2213-8587(18)30336-x"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00268-004-7637-4"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1177\/2050640615611630"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1210\/js.2018-00178"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1996.03540190047028"},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1204"},{"key":"e_1_2_9_12_2","volume-title":"TNM Classification of Malignant Tumours","author":"Brierley J. 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