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Published on: November 10, 2014
DICER1 mutations in Bethesda III/IV thyroid cytology samples: A multicenter observational study
Afreen Karimkhan1, Rong Xia1, DeAnna Diaz2
1Department of Pathology, New York University Langone Health, New York, New York, USA.
Background:
Mutations in DICER1 are uncommon, poorly understood, and infrequently found in thyroid nodules.
Methods:
The objective of this study was to investigate category III/IV thyroid nodules according to The Bethesda System for Reporting Thyroid Cytopathology with DICER1 gene mutations detected in fine-needle aspiration cytology samples using ThyroSeq v3 molecular testing, with a focus on an exploration of the clinical and histopathologic outcomes of these nodules. In this multicenter study spanning more than 6 years, nodules were retrospectively analyzed for patient demographics, clinical course, cytologic features, and histopathology, where available.
Results:
In total, 88 patients with somatic DICER1 mutations were included, with a mean age of 39.6 years and a female predominance. All mutations were in the somatic hotspot region, most commonly at the codon 5437 site. Most excised nodules showed benign histologic features (65.9%). Interestingly, the rate of malignancy was higher in this cohort compared with that in the national average.
Conclusions:
DICER1 mutations appear to confer a higher risk of malignancy, but are not associated with any specific cytological or histopathological distinguishing features.
