title: Absence of 19 known hotspot oncogenic mutations in soft tissue clear cell sarcoma: two cases report with review of the literature.
abstract: Clear cell sarcoma (CCS) of the tendons and aponeuroses is a rare soft tissue sarcoma that morphologically resembles cutaneous malignant melanoma but exhibits a distinct molecular profile. Gastrointestinal (GI) CCS is extremely rare. In this study, two cases of CCS were presented: (1) left thumb and (2) jejunum. Case 1 manifested the characteristic CCS morphology. Case 2 was morphologically unusual and difficult to diagnose. Immunohistochemically, the two cases of tumor cells were diffusely positive for S100, vimentin, NSE protein, focal expression of CgA, and CAM2.5 protein. In case 1, the tumor cells were diffusely positive for HMB45, focal expression of CD56, and melan A antigen. Reverse transcriptase-polymerase chain reaction (RT-PCR) results confirmed the presence of the EWS/ATF1 translocation (type 1) in the two cases. Then, we detected 19 hotspot oncogenes in the two cases. To the best of our knowledge, this study is the first to apply a high-throughput OncoCarta panel 1.0 and MassARRAY system to detect 238 known mutations in 19 hotspot oncogenes in soft tissue clear cell sarcoma. In this study, no mutations were observed in these hotspot oncogenes in the two cases.
authors.affiliation: Department of Pathology, Shihezi University School of Medicine Shihezi, 832002, Xinjiang, China ; Department of Pathology, the First Affiliated Hospital, Shihezi University School of Medicine Shihezi, 832002, Xinjiang, China.
authors.forename: Chunxia
authors.initials: C
authors.lastname: Liu
authors.affiliation: Department of Pathology, Shihezi University School of Medicine Shihezi, 832002, Xinjiang, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Ren
authors.affiliation: Department of Pathology, Shihezi University School of Medicine Shihezi, 832002, Xinjiang, China.
authors.forename: Xiaoying
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Pathology, Shihezi University School of Medicine Shihezi, 832002, Xinjiang, China.
authors.forename: Yuwen
authors.initials: Y
authors.lastname: Cao
authors.affiliation: Department of Pathology, Shihezi University School of Medicine Shihezi, 832002, Xinjiang, China.
authors.forename: Yunzhao
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Pathology, Shihezi University School of Medicine Shihezi, 832002, Xinjiang, China.
authors.forename: Xiaobin
authors.initials: X
authors.lastname: Cui
authors.affiliation: Department of Pathology, the First Affiliated Hospital, Shihezi University School of Medicine Shihezi, 832002, Xinjiang, China.
authors.forename: Li
authors.initials: L
authors.lastname: Li
authors.affiliation: Department of Pathology, Shihezi University School of Medicine Shihezi, 832002, Xinjiang, China ; Department of Pathology, the First Affiliated Hospital, Shihezi University School of Medicine Shihezi, 832002, Xinjiang, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000032:analysis; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007150:Immunohistochemistry; D007580:Jejunal Neoplasms / Q000235:genetics* / Q000473:pathology; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018227:Sarcoma, Clear Cell / Q000235:genetics* / Q000473:pathology; D017422:Sequence Analysis, DNA; D013933:Thumb / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics
chemical_list: D014408:Biomarkers, Tumor; C111598:EWS-ATF1 fusion protein, human; D015514:Oncogene Proteins, Fusion; D014157:Transcription Factors
keywords: Clear cell sarcoma; fuse gene; mutations