Cassalia Fortunato, Cavallin Francesco, Danese Andrea, Del Fiore Paolo, Di Prata Claudia, Rastrelli Marco, Belloni Fortina Anna, Mocellin Simone
Unit of Dermatology, Department of Medicine, University of Padua, 35121 Padua, Italy.
Independent Researcher, 36020 Solagna, Italy.
Cancers (Basel). 2023 Jul 12;15(14):3584. doi: 10.3390/cancers15143584.
Sarcoma may show similarities to malignant melanoma in terms of morphologic and immunohistochemical aspects, making it difficult to differentiate between these two neoplasms during the diagnostic process. This systematic review aims to summarize available evidence on cases of sarcoma that were initially diagnosed as melanoma.
A comprehensive search of the MEDLINE/Pubmed, EMBASE, and SCOPUS databases was conducted through March 2023. We included case series and case reports of sarcoma patients that were initially diagnosed as malignant melanoma. PRISMA guidelines were followed.
Twenty-three case reports and four case series with a total of 34 patients were included. The clinical presentation was heterogeneous, and the most involved anatomical regions were lower limbs (24%), head/neck (24%), and upper limbs (21%). IHC positivity was reported for S100 (69%), HMB45 (63%), MelanA (31%), and MiTF (3%). The main reasons for a second assessment were unusual presentation (48%) and uncertain diagnosis (28%). EWSR1 translocation was investigated in 17/34 patients (50%) and found to be positive in 16/17 (94%). The final diagnosis was clear cell sarcoma (50%) or other soft tissue sarcomas (50%).
Melanoma and some histotypes of sarcoma share many similarities. In cases of atypical lesions, a second diagnosis should be considered, and ESWR1 translocation should be investigated.
肉瘤在形态学和免疫组织化学方面可能与恶性黑色素瘤相似,这使得在诊断过程中难以区分这两种肿瘤。本系统评价旨在总结关于最初被诊断为黑色素瘤的肉瘤病例的现有证据。
截至2023年3月,对MEDLINE/Pubmed、EMBASE和SCOPUS数据库进行了全面检索。我们纳入了最初被诊断为恶性黑色素瘤的肉瘤患者的病例系列和病例报告。遵循PRISMA指南。
纳入了23篇病例报告和4个病例系列,共34例患者。临床表现具有异质性,最常累及的解剖部位是下肢(24%)、头/颈(24%)和上肢(21%)。报告S100免疫组化阳性率为69%,HMB45为63%,MelanA为31%,MiTF为3%。二次评估的主要原因是表现异常(48%)和诊断不确定(28%)。对17/34例患者(50%)进行了EWSR1易位检测,其中16/17例(94%)呈阳性。最终诊断为透明细胞肉瘤(50%)或其他软组织肉瘤(50%)。
黑色素瘤和某些组织学类型的肉瘤有许多相似之处。对于非典型病变,应考虑二次诊断,并检测ESWR1易位情况。