Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2
المؤلفون المشاركون
Elisei, R.
Romei, C.
Cetani, F.
Pardi, E.
المصدر
العدد
المجلد 2012، العدد 2012 (31 ديسمبر/كانون الأول 2012)، ص ص. 1-15، 15ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2012-11-08
دولة النشر
مصر
عدد الصفحات
15
التخصصات الرئيسية
الملخص EN
Multiple endocrine neoplasia (MEN) are clinical inherited syndromes affecting different endocrine glands.
Three different patterns of MEN syndromes can occur (MEN 1, MEN 2A, and MEN 2B).
MEN syndromes are very rare, affect all ages and both sexes are equally affected.
MEN 1 is characterized by the neoplastic transformation of the parathyroid glands, pancreatic islets, anterior pituitary, and gastrointestinal tract.
Heterozygous MEN 1 germline mutations have been detected in about 70–80% of patients with MEN 1.
The mutations are scattered throughout the entire genomic sequence of the gene.
MEN 1 patients are characterized by variable clinical features, thus suggesting the lack of a genotype-phenotype correlation.
Therapeutical approaches are different according to the different endocrinopathies.
The prognosis is generally good if adequate treatment is provided.
In MEN 2 syndromes, the medullary thyroid cancer (MTC) is almost invariably present and can be associated with pheochromocytoma (PHEO) and/or multiple adenomatosis of parathyroid glands with hyperparathyroidism (PHPT).
The different combination of the endocrine neoplasia gives origin to 3 syndromes: MEN 2A, MEN 2B, and FMTC.
The clinical course of MTC varies considerably in the three syndromes.
It is very aggressive in MEN 2B, almost indolent in the majority of patients with FMTC and with variable degrees of aggressiveness in patients with MEN 2A.
Activating germline point mutations of the RET protooncogene are present in 98% of MEN 2 families.
A strong genotype-phenotype correlation has been observed and a specific RET mutation may be responsible for a more or less aggressive clinical course.
The treatment of choice for primary MTC is total thyroidectomy with central neck lymph nodes dissection.
Nevertheless, 30% of MTC patients, especially in MEN 2B and 2A, are not cured by surgery.
Recently, developed molecular therapeutics that target the RET pathway have shown very promising activity in clinical trials of patients with advanced MTC.
MEN 2 prognosis is strictly dependent on the MTC aggressiveness and thus on the success of the initial treatment.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Romei, C.& Pardi, E.& Cetani, F.& Elisei, R.. 2012. Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2. Journal of Oncology،Vol. 2012, no. 2012, pp.1-15.
https://search.emarefa.net/detail/BIM-491973
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Romei, C.…[et al.]. Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2. Journal of Oncology No. 2012 (2012), pp.1-15.
https://search.emarefa.net/detail/BIM-491973
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Romei, C.& Pardi, E.& Cetani, F.& Elisei, R.. Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2. Journal of Oncology. 2012. Vol. 2012, no. 2012, pp.1-15.
https://search.emarefa.net/detail/BIM-491973
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-491973
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