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Morphologic Features of Carcinomas With Recurrent Gene Fusions

Qi, Mei MD; Li, Yanjiang MD, PhD; Liu, Jun MD; Yang, Xiaoqing MD; Wang, Lin MSc; Zhou, Zhiqiang BSc; Han, Bo MD, PhD

doi: 10.1097/PAP.0b013e318273baae
Review Articles

Recurrent gene fusions have been thought to play a central role in leukemias, lymphomas, and sarcomas, but they have been neglected in carcinomas, largely because of technical limitations of cytogenetics. In the past few years, an increasing number of recurrent gene fusions have been recognized in epithelial cancers. The majority of prostate cancers, for example, have an androgen-regulated fusion of one of the ETS transcription factor gene family. Notably, the fusion genes can often serve as specific diagnostic markers, criteria of molecular classification and therefore potential therapeutic targets. Recent studies have focused on investigations of morphologic features (phenotype) of recurrent gene fusions (genotype) in malignancies. In this review, we will summarize the histologic features of known recurrent genomic rearrangements in carcinomas, especially focusing on TMPRSS2-ERG fusion in prostate cancer, EML4-ALK in lung cancer, ETV6-NTRK3 in secretory breast cancer, RET/PTC and PAX8/PPARγ1 rearrangements in thyroid cancer. In addition, we will describe how these features could potentially be used to alert the pathologists of the diagnosis of fusion-positive tumor. A combination of histologic validation with other screening strategies (eg, immunohistochemistry) for recognition of recurrent gene fusions is also highlighted.

*Department of Pathology, Shandong University Medical School

Department of Pathology, Shandong University Qilu Hospital, Jinan

Department of Urology, The Affiliated Hospital of Qingdao University Medical College, Qingdao, China

Supported by the National Natural Science Foundation of China (Grant No. 81072110), Independent Innovation Foundation of Shandong University (Grant No. 2010TB012).

The authors have no conflicts of interest to disclose.

Reprints: Bo Han, MD, PhD, Department of Pathology, Shandong University Medical School, #44, Wenhua Xi Rd, Jinan 250012, P.R. China (e-mail: All figures can be viewed online in color at

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