Academic Journal
A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion
| Title: | A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion |
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| Authors: | Carlotta Giani, Teresa Ramone, Cristina Romei, Raffaele Ciampi, Alessia Tacito, Laura Valerio, Laura Agate, Clara Ugolini, Michele Marinò, Fulvio Basolo, Alessandro Franchi, Simona Borsari, Angela Michelucci, Cesare Selli, Gabriele Materazzi, Filomena Cetani, Rossella Elisei |
| Source: | Case Reports in Endocrinology, Vol 2020 (2020) |
| Publisher Information: | Hindawi Limited, 2020. |
| Publication Year: | 2020 |
| Collection: | LCC:Diseases of the endocrine glands. Clinical endocrinology |
| Subject Terms: | Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| More Details: | Background. Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by RET proto-oncogene 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. Case Report. A 7-year-old 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 RET germline deletion in exon 11 (c.1892_1899delCGAGCT; p.Glu632_Leu633del) was found. She underwent total thyroidectomy, central compartment and latero-cervical 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. Conclusions. 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 “de novo” new germline RET deletion located in exon 11 was found. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2090-6501 2090-651X |
| Relation: | https://doaj.org/toc/2090-6501; https://doaj.org/toc/2090-651X |
| DOI: | 10.1155/2020/4147097 |
| Access URL: | https://doaj.org/article/735b841494db4930aef14e21dfdc9d20 |
| Accession Number: | edsdoj.735b841494db4930aef14e21dfdc9d20 |
| Database: | Directory of Open Access Journals |
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| ISSN: | 20906501 2090651X |
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| DOI: | 10.1155/2020/4147097 |
| Published in: | Case Reports in Endocrinology |
| Language: | English |