A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion
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...
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Wiley
2020-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2020/4147097 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Carlotta Giani |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-735b841494db4930aef14e21dfdc9d20 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-735b841494db4930aef14e21dfdc9d202025-02-03T00:58:43ZengWileyCase Reports in Endocrinology2090-65012090-651X2020-01-01202010.1155/2020/41470974147097A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline DeletionCarlotta Giani0Teresa Ramone1Cristina Romei2Raffaele Ciampi3Alessia Tacito4Laura Valerio5Laura Agate6Clara Ugolini7Michele Marinò8Fulvio Basolo9Alessandro Franchi10Simona Borsari11Angela Michelucci12Cesare Selli13Gabriele Materazzi14Filomena Cetani15Rossella Elisei16Endocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, ItalyEndocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, ItalyEndocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, ItalyEndocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, ItalyEndocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, ItalyEndocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, ItalyEndocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, ItalyPathology Unit, Department of Surgical and Medical Pathology, University Hospital of Pisa, 56124 Pisa, ItalyEndocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, ItalyPathology Unit, Department of Surgical and Medical Pathology, University Hospital of Pisa, 56124 Pisa, ItalyPathology Unit, Department of Translational Research and New Technologies in Medicine and Surgery, University Hospital of Pisa, 56124 Pisa, ItalyEndocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, ItalyUnit of Molecular Genetics, Department of Laboratory Medicine, University Hospital of Pisa, 56126 Pisa, ItalyDivision of Urology, Department of Translational Research and New Technologies in Medicine and Surgery, University Hospital of Pisa, 56124 Pisa, ItalySurgery Unit, Department of Surgical and Medical Pathology, University Hospital of Pisa, 56124 Pisa, ItalyEndocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, ItalyEndocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, ItalyBackground. 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.http://dx.doi.org/10.1155/2020/4147097 |
| spellingShingle | 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 A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion Case Reports in Endocrinology |
| title | A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion |
| title_full | A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion |
| title_fullStr | A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion |
| title_full_unstemmed | A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion |
| title_short | A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion |
| title_sort | new men2 syndrome with clinical features of both men2a and men2b associated with a new ret germline deletion |
| url | http://dx.doi.org/10.1155/2020/4147097 |
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