Abstract：
:The molecular etiology of follicular thyroid tumors is largely unknown, rendering the diagnostics of these tumors challenging. The somatic alterations present in these tumors apart from RAS gene mutations and PAX8/PPARG translocations are not well described. To evaluate the profile of somatic alteration in follicular thyroid tumors, a total of 82 thyroid tissue samples derived from 48 patients were subjected to targeted Illumina HiSeq next generation sequencing of 372 cancer-related genes. New somatic alterations were identified in oncogenes (MDM2, FLI1), transcription factors and repressors (MITF, FLI1, ZNF331), epigenetic enzymes (KMT2A, NSD1, NCOA1, NCOA2), and protein kinases (JAK3, CHEK2, ALK). Single nucleotide and large structural variants were most and least frequently identified, respectively. A novel translocation in DERL/COX6C was detected. Many somatic alterations in non-coding gene regions with high penetrance were observed. Thus, follicular thyroid tumor somatic alterations exhibit complex patterns. Most tumors contained distinct somatic alterations, suggesting previously unreported heterogeneity.
journal_name
Mol Cell Endocrinoljournal_title
Molecular and cellular endocrinologyauthors
Swierniak M,Pfeifer A,Stokowy T,Rusinek D,Chekan M,Lange D,Krajewska J,Oczko-Wojciechowska M,Czarniecka A,Jarzab M,Jarzab B,Wojtas Bdoi
10.1016/j.mce.2016.06.007subject
Has Abstractpub_date
2016-09-15 00:00:00pages
130-7eissn
0303-7207issn
1872-8057pii
S0303-7207(16)30207-6journal_volume
433pub_type
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