通过靶向 RNA-seq 检测 CCOC 中的 EWSR1 融合。

Detection of EWSR1 fusions in CCOC by targeted RNA-seq.

机构信息

Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston, MA, USA; Harvard School of Dental Medicine, Boston, MA, USA.

Department of Pathology, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.

出版信息

Oral Surg Oral Med Oral Pathol Oral Radiol. 2022 Aug;134(2):240-244. doi: 10.1016/j.oooo.2021.12.127. Epub 2021 Dec 25.

DOI:10.1016/j.oooo.2021.12.127

PMID:35165059

Abstract

OBJECTIVE

To describe the application of a targeted RNA sequencing assay to detect fusion transcripts in formalin-fixed paraffin-embedded (FFPE), non-decalcified samples of clear cell odontogenic carcinoma (CCOC) and related tumors, and to add to knowledge of the genetic drivers of CCOC.

STUDY DESIGN

Five FFPE tissues, including intraosseous CCOC (n = 3), clear cell carcinoma of the salivary gland (CCC, n = 1), and Ewing sarcoma (ES, n = 1), were analyzed by targeted RNA-seq to detect fusions.

RESULTS

The 3 intraosseous CCOC samples harbored EWSR1 translocations: EWSR1-ATF1 (n = 2) and EWSR1-CREM (n = 1); the CCC sample contained an EWSR1-ATF1 fusion; and the ES sample contained an EWSR1-FLI1 fusion detected by RNA-seq.

CONCLUSIONS

These results demonstrate that targeted RNA-seq is a valuable tool to detect fusions in FFPE samples of rare tumors such as CCOC and CCC. The results also confirm the observations that CCOC is driven by fusions between EWSR1 and CREB family transcription factors, including ATF1 and CREM. To our knowledge, this is the second report of CCOC with an EWSR1-CREM translocation.

摘要

目的

描述靶向 RNA 测序检测在福尔马林固定石蜡包埋（FFPE）、非脱钙的透明细胞牙源性癌（CCOC）和相关肿瘤的检测融合转录本中的应用，并增加对 CCOC 遗传驱动因素的了解。

研究设计

对 5 例 FFPE 组织，包括骨内 CCOC（n=3）、唾液腺透明细胞癌（CCC，n=1）和尤文肉瘤（ES，n=1），进行靶向 RNA-seq 分析以检测融合。

结果

3 例骨内 CCOC 样本均携带 EWSR1 易位：EWSR1-ATF1（n=2）和 EWSR1-CREM（n=1）；CCC 样本含有 EWSR1-ATF1 融合；ES 样本含有 EWSR1-FLI1 融合，通过 RNA-seq 检测到。

结论

这些结果表明，靶向 RNA-seq 是检测 CCOC 和 CCC 等罕见肿瘤 FFPE 样本中融合的有价值的工具。结果还证实了 CCOC 是由 EWSR1 与 CREB 家族转录因子（包括 ATF1 和 CREM）之间的融合驱动的观察结果。据我们所知，这是第二例报道的 EWSR1-CREM 易位的 CCOC。