Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion gene
Abstract Background It is very rare for clear cell sarcomas (CCS) to arise in the bone. During diagnosis, it is important to distinguish primary CCS of bone from bone metastasis of melanoma because this difference fundamentally changes the therapeutic options. Recently, characteristic fusion genes o...
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| Format: | Article |
| Language: | English |
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BMC
2021-01-01
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| Series: | BMC Musculoskeletal Disorders |
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| Online Access: | https://doi.org/10.1186/s12891-021-03969-4 |
| _version_ | 1818720121664831488 |
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| author | Yuta Kubota Kazuhiro Tanaka Masanori Hisaoka Tsutomu Daa Tatsuya Iwasaki Masanori Kawano Ichiro Itonaga Hiroshi Tsumura |
| author_facet | Yuta Kubota Kazuhiro Tanaka Masanori Hisaoka Tsutomu Daa Tatsuya Iwasaki Masanori Kawano Ichiro Itonaga Hiroshi Tsumura |
| author_sort | Yuta Kubota |
| collection | DOAJ |
| description | Abstract Background It is very rare for clear cell sarcomas (CCS) to arise in the bone. During diagnosis, it is important to distinguish primary CCS of bone from bone metastasis of melanoma because this difference fundamentally changes the therapeutic options. Recently, characteristic fusion genes of CCS have been detected using reverse transcription polymerase chain reaction (RT-PCR) or direct sequencing which allowed to distinguish CCS from melanoma. However, there was no study applying these analyses with positive results. In this case, we describe the use of fusion gene analysis to diagnose a primary CCS of the bone. Case presentation A 36-year-old male presented with a four-months history of left knee pain. Magnetic resonance imaging showed a lesion in the left femoral medial epicondyle. Histological examination of the biopsy specimen revealed proliferating oval or rounded cells. These cells had clear cytoplasm arranged in fascicles or compact nests with frequent deposits of brown pigment. Furthermore, immunohistochemistry analysis revealed that tumor cells were positive for S-100 protein, HMB-45, Melan-A, and SOX10. It stained negative for CD34 and BRAF v600e. Conclusively, detection of the EWSR1/ATF1 fusion gene using RT-PCR and direct sequencing confirmed that the lesion was a primary CCS of the bone. Wide-margin resection and reconstruction with a tumor endoprosthesis were performed. Conclusions Herein, we diagnosed a rare case of primary CCS of the bone by detecting EWSR1/ATF1 fusion gene using RT-PCR and direct sequencing. Since fluorescence-in situ hybridization (FISH) and RT-PCR could show false positive by mainly due to technical problems, it is better to perform direct sequencing to confidently diagnose the tumor as a primary CCS especially at very rare site such as bone. |
| first_indexed | 2024-12-17T20:17:48Z |
| format | Article |
| id | doaj.art-659d07d75ea94fefa924cd26f8c37db9 |
| institution | Directory Open Access Journal |
| issn | 1471-2474 |
| language | English |
| last_indexed | 2024-12-17T20:17:48Z |
| publishDate | 2021-01-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Musculoskeletal Disorders |
| spelling | doaj.art-659d07d75ea94fefa924cd26f8c37db92022-12-21T21:34:01ZengBMCBMC Musculoskeletal Disorders1471-24742021-01-012211910.1186/s12891-021-03969-4Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion geneYuta Kubota0Kazuhiro Tanaka1Masanori Hisaoka2Tsutomu Daa3Tatsuya Iwasaki4Masanori Kawano5Ichiro Itonaga6Hiroshi Tsumura7Department of Orthopaedic Surgery, Faculty of Medicine, Oita UniversityDepartment of Orthopaedic Surgery, Faculty of Medicine, Oita UniversityDepartment of Pathology and Oncology, School of Medicine, University of Occupational and Environmental HealthDepartment of Diagnostic Pathology, Faculty of Medicine, Oita UniversityDepartment of Orthopaedic Surgery, Faculty of Medicine, Oita UniversityDepartment of Orthopaedic Surgery, Faculty of Medicine, Oita UniversityDepartment of Orthopaedic Surgery, Faculty of Medicine, Oita UniversityDepartment of Orthopaedic Surgery, Faculty of Medicine, Oita UniversityAbstract Background It is very rare for clear cell sarcomas (CCS) to arise in the bone. During diagnosis, it is important to distinguish primary CCS of bone from bone metastasis of melanoma because this difference fundamentally changes the therapeutic options. Recently, characteristic fusion genes of CCS have been detected using reverse transcription polymerase chain reaction (RT-PCR) or direct sequencing which allowed to distinguish CCS from melanoma. However, there was no study applying these analyses with positive results. In this case, we describe the use of fusion gene analysis to diagnose a primary CCS of the bone. Case presentation A 36-year-old male presented with a four-months history of left knee pain. Magnetic resonance imaging showed a lesion in the left femoral medial epicondyle. Histological examination of the biopsy specimen revealed proliferating oval or rounded cells. These cells had clear cytoplasm arranged in fascicles or compact nests with frequent deposits of brown pigment. Furthermore, immunohistochemistry analysis revealed that tumor cells were positive for S-100 protein, HMB-45, Melan-A, and SOX10. It stained negative for CD34 and BRAF v600e. Conclusively, detection of the EWSR1/ATF1 fusion gene using RT-PCR and direct sequencing confirmed that the lesion was a primary CCS of the bone. Wide-margin resection and reconstruction with a tumor endoprosthesis were performed. Conclusions Herein, we diagnosed a rare case of primary CCS of the bone by detecting EWSR1/ATF1 fusion gene using RT-PCR and direct sequencing. Since fluorescence-in situ hybridization (FISH) and RT-PCR could show false positive by mainly due to technical problems, it is better to perform direct sequencing to confidently diagnose the tumor as a primary CCS especially at very rare site such as bone.https://doi.org/10.1186/s12891-021-03969-4Clear cell sarcomaPrimary bone tumorMelanomaFusion geneDirect sequencingReverse transcription polymerase chain reaction |
| spellingShingle | Yuta Kubota Kazuhiro Tanaka Masanori Hisaoka Tsutomu Daa Tatsuya Iwasaki Masanori Kawano Ichiro Itonaga Hiroshi Tsumura Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion gene BMC Musculoskeletal Disorders Clear cell sarcoma Primary bone tumor Melanoma Fusion gene Direct sequencing Reverse transcription polymerase chain reaction |
| title | Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion gene |
| title_full | Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion gene |
| title_fullStr | Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion gene |
| title_full_unstemmed | Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion gene |
| title_short | Primary clear cell sarcoma of the femur: a unique case with RT-PCR and direct sequencing confirmation of EWSR1/ATF1 fusion gene |
| title_sort | primary clear cell sarcoma of the femur a unique case with rt pcr and direct sequencing confirmation of ewsr1 atf1 fusion gene |
| topic | Clear cell sarcoma Primary bone tumor Melanoma Fusion gene Direct sequencing Reverse transcription polymerase chain reaction |
| url | https://doi.org/10.1186/s12891-021-03969-4 |
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