A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion
| العنوان: | A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion |
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| المؤلفون: | Raffaele Ciampi, Cristina Romei, Clara Ugolini, Michele Marinò, Cesare Selli, Angela Michelucci, Teresa Ramone, Rossella Elisei, Alessandro Franchi, Gabriele Materazzi, Laura Agate, Carlotta Giani, Simona Borsari, Laura Valerio, Filomena Cetani, Fulvio Basolo, Alessia Tacito |
| المصدر: | Case Reports in Endocrinology Case Reports in Endocrinology, Vol 2020 (2020) |
| بيانات النشر: | Hindawi, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Thyroid nodules, Pathology, medicine.medical_specialty, endocrine system diseases, business.industry, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Multiple endocrine neoplasia type 2, Case Report, RC648-665, medicine.disease, Diseases of the endocrine glands. Clinical endocrinology, Pheochromocytoma, Thyroid carcinoma, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, Plexiform neurofibroma, 030220 oncology & carcinogenesis, medicine, business, Lymph node, Primary hyperparathyroidism, Parathyroid adenoma |
| الوصف: | 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. |
| اللغة: | English |
| تدمد: | 2090-651X 2090-6501 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b39a6f499bf7bff07e8c3a49a120852Test http://europepmc.org/articles/PMC7411486Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....9b39a6f499bf7bff07e8c3a49a120852 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2090651X 20906501 |
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