Document Detail


Diagnostic correlation between RET proto-oncogene mutation, imaging techniques, biochemical markers and morphological examination in MEN2A syndrome: case report and literature review.
MedLine Citation:
PMID:  24969991     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Multiple endocrine neoplasia type 2 (MEN2) is a rare autosomal dominant monogenic disorder caused mostly by missense mutations in the RET (REarranged during Transfection) proto-oncogene on chromosome 10q11.2. MEN2A represents more than 50% of all MEN2 cases, having a regular pattern with medullary thyroid carcinoma (MTC) incidence of 90-100%, bilateral pheochromocytoma (PCC) incidence of 40-50% and primary hyperparathyroidism (HPT) incidence of 10-25%. Until recently, the diagnosis of MTC was most frequently based on fine-needle aspiration of thyroid nodules, after an ultrasound examination and endocrine evaluation of serum calcitonin levels. Nowadays, RET gene screening (starting with exons 10 and 11) is a mandatory test used for identification of both symptomatic and non-symptomatic MTC carriers or for exclusion of healthy individuals from subsequent periodical clinical÷biochemical screening. In this context, and in the idea of PCC preceding MTC, the early detection of germline RET mutations are highly suggestive for hereditary disease. PCC diagnosis is established in classical manner by abdominal ultrasound imaging or computed tomography confirming the presence of adrenal gland masses, elevated plasma metanephrines and normetanephrines values and histopathological examination. Additional HPT diagnosis is acknowledged by serum ionized calcium and parathormone levels. Here we report a hereditary case of MEN2A in a two-generation Romanian family, along with data presenting the importance of correlative plurifactorial diagnostic scheme in this syndrome and a short literature review.
Authors:
Alina Simona Sovrea; Eleonora Dronca; Mihaela Galatâr; Serban Radian; Corina Vornicescu; Carmen Georgescu
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie     Volume:  55     ISSN:  1220-0522     ISO Abbreviation:  Rom J Morphol Embryol     Publication Date:  2014  
Date Detail:
Created Date:  2014-06-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9112454     Medline TA:  Rom J Morphol Embryol     Country:  Romania    
Other Details:
Languages:  eng     Pagination:  389-400     Citation Subset:  IM    
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