Abstract
The genomic alterations for benign thyroid nodule, especially adenomatoid nodule, one of the most common types of hyperplasia lesion, are ill-studied. Here, we show whole-exome sequencing and/or transcriptome sequencing data on adenomatoid nodules with or without coincidental papillary thyroid carcinoma (PTC). Somatic mutation of BRAF (22/32) is only detected in PTC, while mutations in SPOP (4/38), ZNF148 (6/38) and EZH1 (3/38) are found enriched in adenomatoid nodule. In an expanded cohort of adenomatoid nodule (n=259) mutually exclusive SPOPP94R, EZH1Q571R and ZNF148 mutations are identified in 24.3% of them. Adenomatoid nodules show very few overlapped mutations and distinct gene expression patterns with their coincidental PTC. Phylogenetic tree analysis uncovers that PTCs evolved independently from their matched benign nodules. Our findings reveal that benign nodules possess a unique molecular signature that differs from PTC and provide genomic evidence for the conventional belief that PTC and benign nodules have independent origin.
Highlights
The genomic alterations for benign thyroid nodule, especially adenomatoid nodule, one of the most common types of hyperplasia lesion, are ill-studied
We found 24.3% of adenomatoid nodule carried mutually exclusive SPOPP94R, EZH1Q571R and ZNF148 mutations, a unique molecular signature that differs from papillary thyroid carcinoma (PTC)
Our studies identified a common characteristic genetic profile of benign nodules, mutually exclusive mutation of SPOP, ZNF148 and EZH1 was observed in 24.3% of the adenomatoid nodules but not in matched PTC tumours
Summary
The genomic alterations for benign thyroid nodule, especially adenomatoid nodule, one of the most common types of hyperplasia lesion, are ill-studied. Our findings reveal that benign nodules possess a unique molecular signature that differs from PTC and provide genomic evidence for the conventional belief that PTC and benign nodules have independent origin. While the genetic alterations for benign hyperplasia thyroid nodule, especially adenomatoid nodule, one of the most common hyperplasia lesions and undistinguished from follicular thyroid carcinoma in fine need aspiration[6], are ill-studied. We found 24.3% of adenomatoid nodule carried mutually exclusive SPOPP94R, EZH1Q571R and ZNF148 mutations, a unique molecular signature that differs from PTC. We provide genomic evidence for the conventional belief that PTC and benign nodules have independent origin
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