ArticleAACE endocrinology and diabetes
Novel Mutation Associated With Papillary Thyroid Cancer.
Article in AACE endocrinology and diabetes. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: The widespread adoption of molecular testing for cytologically indeterminate thyroid nodules has revealed mutations not previously described in thyroid cancer. The current study reports a novel case of papillary thyroid cancer with a FAT1 mutation. Case Report: A 47-year-old female presented with a palpable thyroid nodule. Ultrasound revealed a dominant left mid 1.3 cm TI-RADS 4 thyroid nodule. Fine needle aspiration revealed atypia of undetermined significance (Bethesda III); molecular testing with Afirma Genomic Sequencing Classifier was suspicious and identified a FAT1p.V912I c.2734G>A mutation. The patient underwent left thyroid lobectomy. Histopathology revealed papillary thyroid cancer in the index nodule, as well as 2 other foci of papillary thyroid cancer. Discussion: FAT1 mutation has been previously associated with head and neck squamous cell carcinoma but has not been reported in the context of papillary thyroid cancer. Conclusion: FAT1 gene variation may be a novel mutation associated with papillary thyroid cancer.
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