This study was the first published research effort that identified the DNAJB1-PRKACA chimeric transcript in fibrolamellar carcinoma tumors. By performing RNA sequencing on tumor and healthy tissue samples, a chimeric transcript was discovered that had not been previously reported in the literature. This fusion transcript arises due to a ~400-kilobase deletion on chromosome 19. In addition, immunoprecipitation and Western blot analyses were used to confirm that a predicted chimeric protein is expressed in FLC tumor tissue. Because the DNAJB1-PRKACA chimeric transcript was present in all 15 tumors examined, the study suggests that this genetic alteration contributes to the development of FLC tumors.
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