Lee Jin Wook, Kim Dong Min, Lee Ji Yeoun, Yoon Tae Young
Department of Dermatology, Chungbuk National University Hospital, Cheongju, Korea.
Department of Dermatology, College of Medicine, Chungbuk National University, Cheongju, Korea.
Ann Dermatol. 2022 Feb;34(1):72-75. doi: 10.5021/ad.2022.34.1.72. Epub 2022 Jan 27.
Primary cutaneous extraskeletal Ewing sarcoma (EWS) is a primitive neuroectodermal tumor that usually occurs as a small, localized tumor on the trunk or extremities of young adults. The prognosis is typically reported to be quite favorable. It is extremely rare; only three cases of primary cutaneous EWS have been reported in Korea. In the first report, molecular genetic testing was not performed to make a definitive diagnosis. In the second report, reverse transcription polymerase chain reaction (RT-PCR) for gene arrangement was done, but the result was negative. Although RT-PCR and fluorescence hybridization (FISH) were performed in the third report, none of the results were shown in the article. Considering that genetic testing is an essential diagnostic tool for certain diseases, such as some brain tumors, we report a case of primary cutaneous extraskeletal EWS, including the result of RT-PCR. A 36-year-old Korean female presented with a cutaneous mass on the abdomen. Histological evaluation revealed solid sheets of primitive, small, uniform cells with hyperchromatic nuclei and scant cytoplasm. Immunohistochemistry stains were positive for CD99 and FLI1. RT-PCR showed a t(11;22) (Ewing sarcoma region 1)- (Friend leukemia virus integration 1) translocation.
原发性皮肤骨外尤文肉瘤（EWS）是一种原始神经外胚层肿瘤，通常表现为年轻成年人躯干或四肢上的小局限性肿瘤。据报道，其预后通常相当良好。它极为罕见；韩国仅报告了3例原发性皮肤EWS。在第一例报告中，未进行分子基因检测以做出明确诊断。在第二例报告中，进行了基因重排的逆转录聚合酶链反应（RT-PCR），但结果为阴性。尽管在第三例报告中进行了RT-PCR和荧光原位杂交（FISH），但文章中未显示任何结果。鉴于基因检测是某些疾病（如一些脑肿瘤）的重要诊断工具，我们报告一例原发性皮肤骨外EWS病例，包括RT-PCR结果。一名36岁的韩国女性腹部出现皮肤肿物。组织学评估显示为原始、小而均匀的细胞构成的实性片块，细胞核深染，细胞质稀少。免疫组化染色CD99和FLI1呈阳性。RT-PCR显示t(11;22) （尤文肉瘤区域1）-（Friend白血病病毒整合1）易位。
