Cajaiba Mariana M, Jennings Lawrence J, Rohan Stephen M, Leuer Katrin M, Anagnost Miran R, Fahner James B, Fulton Barbara K, Geller James I, Perlman Elizabeth J
*Department of Pathology and Laboratory Medicine, Robert Lurie Cancer Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL †Department of Pathology, Colorado Pathology Consultants, Saint Joseph Hospital, Denver, CO ‡LMC Pathology Services, Sunrise Children's Hospital, Las Vegas, NV §Department of Pediatric Hematology/Oncology ∥Spectrum Health Regional Laboratory, Helen DeVos Children's Hospital, Grand Rapids, MI ¶Division of Pediatric Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH.
Am J Surg Pathol. 2016 Mar;40(3):386-94. doi: 10.1097/PAS.0000000000000545.
We report the first 2 examples of primary renal myoepithelial carcinoma (MEC), both occurring in children. Both tumors had the unique morphologic features, immunophenotype, and EWSR1 gene rearrangements supporting the diagnosis. In keeping with the previous observations of an aggressive behavior in pediatric MEC, both cases presented with advanced local stage and distant metastases at the time of diagnosis. The EWSR1 translocation partner was identified as the Kruppel-like factor 15 (KLF15) gene in both tumors, and the novel EWSR1-KLF15 gene fusion transcripts were verified using reverse transcription polymerase chain reaction and Sanger dideoxy sequencing. So far, a role for KLF15 in carcinogenesis has not been established, in contrast to other members of the Kruppel-like family of transcription factors, and no rearrangements involving this gene have been documented to our knowledge. These findings expand the spectrum of pediatric renal tumors to include MEC. The characterization of novel EWSR1-KLF15 fusion transcripts carries important diagnostic implications, as well as clues to understand the pathogenesis of these neoplasms.
我们报告了首例原发性肾肌上皮癌（MEC）的2个病例，均发生于儿童。这两个肿瘤均具有独特的形态学特征、免疫表型以及支持该诊断的EWSR1基因重排。与之前观察到的儿童MEC侵袭性行为一致，这两个病例在诊断时均表现为局部晚期和远处转移。在这两个肿瘤中，EWSR1易位伴侣均被鉴定为 Kruppel样因子15（KLF15）基因，并且使用逆转录聚合酶链反应和桑格双脱氧测序验证了新的EWSR1-KLF15基因融合转录本。到目前为止，与Kruppel样转录因子家族的其他成员不同，KLF15在致癌作用中的作用尚未确定，据我们所知，尚未有涉及该基因重排的文献记载。这些发现扩大了儿童肾肿瘤的范围，将MEC纳入其中。新的EWSR1-KLF15融合转录本的特征具有重要的诊断意义，同时也为理解这些肿瘤的发病机制提供了线索。
