Literature DB >> 22715565

MEN 2A family--prophylactic thyroidectomy for asymptomatic siblings with positive 634 codon mutation.

Sudhi Agarwal1, Amit Agarwal, Gyan Chand, Sushil Kumar Gupta, Manoj Jain, Pooja Ramakant.   

Abstract

Multiple endocrine neoplasia 2a (MEN2a) syndrome is one of the rare genetic disorder where prophylactic thyroidectomy is recommended for RET mutation carriers due to increased risk for developing MTC during lifetime. We present a case report of prophylactic total thyroidectomy in a family based on genetic screening that proved to be MTC on histopathology. This is the first reported case in India where siblings underwent codon oriented prophylactic total thyroidectomy based solely on genetic analysis for MEN2a syndrome.

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Year:  2012        PMID: 22715565

Source DB:  PubMed          Journal:  J Assoc Physicians India        ISSN: 0004-5772


  2 in total

1.  How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies?

Authors:  Thomas Karrasch; Saskia M Herbst; Ute Hehr; Andreas Schmid; Andreas Schäffler
Journal:  Eur Thyroid J       Date:  2016-02-25

2.  Long-term Clinicopathological Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by C634R RET Gene Mutation.

Authors:  Meghana Prabhu; Sunil Shakya; Sanjana Ballal; Shamim Ahmed Shamim; Chandrasekhar Bal
Journal:  Indian J Nucl Med       Date:  2019-12-31
  2 in total

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