Fig. 4

Recurrent PAX8–GLIS3 fusion gene in hyalinizing trabecular tumors of the thyroid. a Schematic representation of the PAX8–GLIS3 fusion transcript including the exons and domains involved. The breakpoint of the 5′ and 3′ partner genes are represented as black vertical lines. Spanning reads are depicted and aligned to the predicted junction sequence. b Schematic representation the Reads Per Kilobase per Million (RPKM) mapped read counts of each exon of GLIS3. The GLIS3 fusion breakpoint is represented as a red dashed line. c Representative micrographs of fluorescent in situ hybridization for PAX8–GLIS3. d A representative Sanger sequencing electropherogram of the genomic PAX8–GLIS3 breakpoint (top) and frequency of PAX8–GLIS3 fusion gene in hyalinizing trabecular tumors involved in this study determined by RT-PCR (bottom). e Frequency of the PAX8–GLIS3 fusion gene in hyalinizing trabecular tumors and other thyroid neoplasms of the control cohort determined by RT-PCR. AC anaplastic carcinomas, FA follicular adenomas, FC follicular carcinomas, HCT hurthle cell tumors, HTT hylinizing trabecular tumors, MC medullary carcinomas, PDC poorly differentiated carcinomas, PTC papillary thyroid carcinomas. f Frequency of PAX8–GLIS3 fusion gene in hyalinizing trabecular tumors analyzed in this study and by Nikiforova et al., and other neoplasms as reported by The Cancer Genome Atlas fusion gene database. HTT hyalinizing trabecular tumor, ACC adrenocortical carcinoma, BLCA bladder urothelial carcinoma, BRCA breast invasive carcinoma, CESC cervical squamous cell carcinoma and endocervical adenocarcinoma, CHOL cholangiocarcinoma, COAD colon adenocarcinoma, DLBC lymphoid neoplasm diffuse large B-cell lymphoma, ESCA esophageal carcinoma, GBM glioblastoma multiforme, HNSC head and neck squamous cell carcinoma, KICH kidney chromophobe, KIRC kidney renal clear cell carcinoma, KIRP kidney renal papillary cell carcinoma, LAML acute myeloid leukemia, LGG brain lower grade glioma, LIHC liver hepatocellular carcinoma, LUAD lung adenocarcinoma, LUSC lung squamous cell carcinoma, MESO mesothelioma, OV ovarian serous cystadenocarcinoma, PAAD pancreatic adenocarcinoma, PCPG pheochromocytoma and paraganglioma, PRAD prostate adenocarcinoma, READ rectum adenocarcinoma, SARC sarcoma, SKCM skin cutaneous melanoma, STAD stomach adenocarcinoma, TGCT testicular germ cell tumors, THCA thyroid carcinoma, THYM thymoma, UCEC uterine corpus endometrial carcinoma, UCS uterine carcinosarcoma, UVM uveal melanoma