Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors
Background. Chordomas are rare malignant bone tumors preferentially forming in neuraxial bones. Chondroid chordoma is a subtype of chordoma. Chordomas reportedly present as synchronous multiple lesions upon initial diagnosis. However, it remains unknown whether these lesions are multicentric or meta...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2020/8877722 |
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| author | Hiroshi Kobayashi Masahiro Shin Naohiro Makise Aya Shinozaki-Ushiku Masachika Ikegami Yuki Taniguchi Yusuke Shinoda Shinji Kohsaka Tetsuo Ushiku Katsutoshi Oda Kiyoshi Miyagawa Hiroyuki Aburatani Hiroyuki Mano Sakae Tanaka |
| author_facet | Hiroshi Kobayashi Masahiro Shin Naohiro Makise Aya Shinozaki-Ushiku Masachika Ikegami Yuki Taniguchi Yusuke Shinoda Shinji Kohsaka Tetsuo Ushiku Katsutoshi Oda Kiyoshi Miyagawa Hiroyuki Aburatani Hiroyuki Mano Sakae Tanaka |
| author_sort | Hiroshi Kobayashi |
| collection | DOAJ |
| description | Background. Chordomas are rare malignant bone tumors preferentially forming in neuraxial bones. Chondroid chordoma is a subtype of chordoma. Chordomas reportedly present as synchronous multiple lesions upon initial diagnosis. However, it remains unknown whether these lesions are multicentric or metastatic multiple chordoma tumors. Case Presentation. Here, we present the case of a 57-year-old woman with multiple chordomas at the clivus, C6, and T12 upon initial presentation. Sequential surgeries and radiotherapy were performed for these lesions, and postoperative histological diagnosis revealed that all lesions were chondroid chordomas. Next-generation sequencing revealed that these lesions harbored a common somatic mutation in epidermal growth factor receptor (EGFR), c.3617A>C, which is not considered a pathogenic chordoma mutation, thus indicating that these lesions were not multicentric but rather multiple metastatic tumors. Subsequent multiple metastases to the lung and appendicular and axial bones were detected 15 months after the initial surgery. Recurrent lesions at the clivus progressed despite EGFR-targeted therapy, surgery, and radiotherapy. Conclusion. The present evidence indicates that multiple chordomas in this case were caused by multiple metastases rather than multicentric lesions. Multiple presentations of chordoma imply systemic dissemination of tumor cells, and novel efficient systemic therapy is required to treat this disease. |
| format | Article |
| id | doaj-art-9ff7cd50d86b4d1693cab59ce67f9ade |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-9ff7cd50d86b4d1693cab59ce67f9ade2025-02-03T05:51:16ZengWileyCase Reports in Genetics2090-65442090-65522020-01-01202010.1155/2020/88777228877722Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric TumorsHiroshi Kobayashi0Masahiro Shin1Naohiro Makise2Aya Shinozaki-Ushiku3Masachika Ikegami4Yuki Taniguchi5Yusuke Shinoda6Shinji Kohsaka7Tetsuo Ushiku8Katsutoshi Oda9Kiyoshi Miyagawa10Hiroyuki Aburatani11Hiroyuki Mano12Sakae Tanaka13Department of Orthopaedic Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanDepartment of Neurosurgery, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanDepartment of Pathology, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanDepartment of Pathology, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanDepartment of Orthopaedic Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanDepartment of Orthopaedic Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanDepartment of Orthopaedic Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanDivision of Cellular Signaling, National Cancer Center Research Institute, Tokyo, JapanDepartment of Pathology, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanDivision of Integrative Genomics, The University of Tokyo, Tokyo, JapanLaboratory of Molecular Radiology, Center for Disease Biology and Integrative Medicine, The University of Tokyo, Tokyo, JapanGenome Science Division, Research Center for Advanced Science and Technology, The University of Tokyo, Tokyo, JapanDivision of Cellular Signaling, National Cancer Center Research Institute, Tokyo, JapanDepartment of Orthopaedic Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanBackground. Chordomas are rare malignant bone tumors preferentially forming in neuraxial bones. Chondroid chordoma is a subtype of chordoma. Chordomas reportedly present as synchronous multiple lesions upon initial diagnosis. However, it remains unknown whether these lesions are multicentric or metastatic multiple chordoma tumors. Case Presentation. Here, we present the case of a 57-year-old woman with multiple chordomas at the clivus, C6, and T12 upon initial presentation. Sequential surgeries and radiotherapy were performed for these lesions, and postoperative histological diagnosis revealed that all lesions were chondroid chordomas. Next-generation sequencing revealed that these lesions harbored a common somatic mutation in epidermal growth factor receptor (EGFR), c.3617A>C, which is not considered a pathogenic chordoma mutation, thus indicating that these lesions were not multicentric but rather multiple metastatic tumors. Subsequent multiple metastases to the lung and appendicular and axial bones were detected 15 months after the initial surgery. Recurrent lesions at the clivus progressed despite EGFR-targeted therapy, surgery, and radiotherapy. Conclusion. The present evidence indicates that multiple chordomas in this case were caused by multiple metastases rather than multicentric lesions. Multiple presentations of chordoma imply systemic dissemination of tumor cells, and novel efficient systemic therapy is required to treat this disease.http://dx.doi.org/10.1155/2020/8877722 |
| spellingShingle | Hiroshi Kobayashi Masahiro Shin Naohiro Makise Aya Shinozaki-Ushiku Masachika Ikegami Yuki Taniguchi Yusuke Shinoda Shinji Kohsaka Tetsuo Ushiku Katsutoshi Oda Kiyoshi Miyagawa Hiroyuki Aburatani Hiroyuki Mano Sakae Tanaka Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors Case Reports in Genetics |
| title | Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors |
| title_full | Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors |
| title_fullStr | Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors |
| title_full_unstemmed | Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors |
| title_short | Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors |
| title_sort | genetic testing distinguishes multiple chondroid chordomas with neuraxial bone metastases from multicentric tumors |
| url | http://dx.doi.org/10.1155/2020/8877722 |
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