Rare manifestation of multiple endocrine neoplasia type 2A & cutaneous lichen amyloidosis in a family with RET gene mutation

[...]early diagnosis and timely treatment are essential for their survival. [...]we identified a rare variant of CLA with MEN 2A in a patient resulting due to Cys634Arg RET gene mutation. The study gives an insight on the important clinical parameters like age at onset of MTC and CLA and emphasizes...

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Bibliographic Details
Published in:Indian journal of medical research (New Delhi, India : 1994) India : 1994), 2014-11, Vol.140 (5), p.779-781
Main Authors: Birla, Shweta, Singla, Rajiv, Sharma, Arundhati, Tandon, Nikhil
Format: Article
Language:English
Subjects:
Adrenal glands
Age
Family medical history
Kinases
Ligands
Mutation
Neuroendocrine tumors
Scholarships & fellowships
Surgery
Thyroid cancer
Tumors
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Summary:[...]early diagnosis and timely treatment are essential for their survival. [...]we identified a rare variant of CLA with MEN 2A in a patient resulting due to Cys634Arg RET gene mutation. The study gives an insight on the important clinical parameters like age at onset of MTC and CLA and emphasizes the role of molecular genetic studies for early mutation detection which would aid in commencement of appropriate biochemical tests, their duration and frequency for tracking the progression of the disease.
ISSN:0971-5916