A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion
المؤلفون المشاركون
Elisei, R.
Materazzi, Gabriele
Giani, Carlotta
Ramone, Teresa
Romei, Cristina
Ciampi, Raffaele
Tacito, Alessia
Valerio, Laura
Agate, Laura
Ugolini, Clara
Marinò, Michele
Basolo, Fulvio
Franchi, Alessandro
Borsari, Simona
Selli, Cesare
Cetani, F.
Michelucci, Angela
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-07-29
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
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.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Giani, Carlotta& Ramone, Teresa& Romei, Cristina& Ciampi, Raffaele& Tacito, Alessia& Valerio, Laura…[et al.]. 2020. A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion. Case Reports in Endocrinology،Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1147007
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Giani, Carlotta…[et al.]. A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion. Case Reports in Endocrinology No. 2020 (2020), pp.1-7.
https://search.emarefa.net/detail/BIM-1147007
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Giani, Carlotta& Ramone, Teresa& Romei, Cristina& Ciampi, Raffaele& Tacito, Alessia& Valerio, Laura…[et al.]. A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion. Case Reports in Endocrinology. 2020. Vol. 2020, no. 2020, pp.1-7.
https://search.emarefa.net/detail/BIM-1147007
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1147007
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر