MEN 2A family--prophylactic thyroidectomy for asymptomatic siblings with positive 634 codon mutation.
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.
Department of Endocrine Surgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh.
Sudhi
S
Agarwal
Amit
A
Agarwal
Gyan
G
Chand
Sushil Kumar
SK
Gupta
Manoj
M
Jain
Pooja
P
Ramakant
D000293:Adolescent; D015415:Biomarkers; D018276:Carcinoma, Medullary / Q000151:congenital; D002648:Child; D003062:Codon; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006042:Goiter / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007194:India; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D010282:Parathyroid Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D016133:Polymerase Chain Reaction; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D035781:Siblings; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D013965:Thyroidectomy; D016896:Treatment Outcome
D015415:Biomarkers; D003062:Codon; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human