Seven-year follow-up of a juvenile female with papillary thyroid carcinoma with poor outcome, BRAF mutation and loss of expression of iodine-metabolizing genes.
BACKGROUND
Recent studies reported that BRAF V600E mutation, the most prevalent genetic event found in papillary thyroid carcinoma, is an independent poor prognostic marker. Additionally, it correlates with a less differentiated tumor stage due to reduced expression of key genes involved in iodine metabolism. We previously described a patient with BRAF V600E mutation in primary tumor and a new mutation (V600E+K601del) in the matched-lymph node metastases. In the present study we report an unusual clinical behavior of PTC and correlate with BRAF mutational status and level of expression of TSHR and NIS.


METHODS
Quantitative PCR (qPCR) was used to evaluate the NIS and TSHR level of expression in matched papillary thyroid carcinoma and adjacent normal tissue.


RESULTS
In this study, we presented a seven-year follow up of a juvenile papillary thyroid carcinoma patient who had an aggressive tumor harboring BRAF mutation, and failed to conventional therapy. We found a markedly decrease of NIS and TSHR expression in primary PTC compared to adjacent normal thyroid tissue.


CONCLUSIONS
Our findings suggest that BRAF mutational status and decreased NIS and TSHR expression in this patient may reduce radioiodine uptake and lead to a negative response to radioiodine therapy.
Oler
Gisele
G
Federal University of São Paulo, SP, Brazil.
Nakabashi
Claudia D
CD
Biscolla
Rosa Paula M
RP
Cerutti
Janete M
JM
D000293:Adolescent; D002291:Carcinoma, Papillary / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D015870:Gene Expression; D006801:Humans; D007455:Iodine / Q000378:metabolism; D009154:Mutation; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D011989:Receptors, Thyrotropin / Q000235:genetics; D027981:Symporters / Q000235:genetics; D013964:Thyroid Neoplasms / Q000235:genetics*; D000099209:Sodium-Iodide Symporters
D007455:Iodine; D048493:Proto-Oncogene Proteins B-raf; D011989:Receptors, Thyrotropin; D027981:Symporters; D000099209:Sodium-Iodide Symporters; C482119:BRAF protein, human