COL1A1-PDGFB融合遺伝子で診断しえた線維肉腫成分を伴う隆起性皮膚線維肉腫肺転移の1例
紡錘形細胞から成る肺腫瘍の鑑別診断はときに困難である．症例は45歳男性．39歳時に額部の皮膚腫瘤を切除された．隆起性皮膚線維肉腫（DFSP）の亜型である，線維肉腫成分を伴うDFSPと診断された．45歳時に左肺S4に18 mmの境界明瞭な結節を認め，悪性腫瘍を否定できず，胸腔鏡下肺部分切除術を施行した．肺腫瘍は線維肉腫様の配列をとる紡錘形細胞から成り，CD 34陽性，vimentin陽性，cytokeratin陰性であり，線維肉腫成分を伴うDFSPの転移が示唆された．しかし，DFSPに特徴的な花むしろ様形態（storiform pattern）成分を欠き，他の肉腫疾患と鑑別を要した．RT-PCR...
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| Published in | 日本呼吸器外科学会雑誌 Vol. 28; no. 6; pp. 764 - 770 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
特定非営利活動法人 日本呼吸器外科学会
2014
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0919-0945 1881-4158 |
| DOI | 10.2995/jacsurg.28.764 |
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| Abstract | 紡錘形細胞から成る肺腫瘍の鑑別診断はときに困難である．症例は45歳男性．39歳時に額部の皮膚腫瘤を切除された．隆起性皮膚線維肉腫（DFSP）の亜型である，線維肉腫成分を伴うDFSPと診断された．45歳時に左肺S4に18 mmの境界明瞭な結節を認め，悪性腫瘍を否定できず，胸腔鏡下肺部分切除術を施行した．肺腫瘍は線維肉腫様の配列をとる紡錘形細胞から成り，CD 34陽性，vimentin陽性，cytokeratin陰性であり，線維肉腫成分を伴うDFSPの転移が示唆された．しかし，DFSPに特徴的な花むしろ様形態（storiform pattern）成分を欠き，他の肉腫疾患と鑑別を要した．RT-PCR法で遺伝子検索を行ったところ，DFSPに特異的なCOL1A1-PDGFB融合遺伝子が検出された．肺腫瘍に線維肉腫成分のみを認める症例では遺伝子検査は有用である． |
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| AbstractList | 紡錘形細胞から成る肺腫瘍の鑑別診断はときに困難である．症例は45歳男性．39歳時に額部の皮膚腫瘤を切除された．隆起性皮膚線維肉腫（DFSP）の亜型である，線維肉腫成分を伴うDFSPと診断された．45歳時に左肺S4に18 mmの境界明瞭な結節を認め，悪性腫瘍を否定できず，胸腔鏡下肺部分切除術を施行した．肺腫瘍は線維肉腫様の配列をとる紡錘形細胞から成り，CD 34陽性，vimentin陽性，cytokeratin陰性であり，線維肉腫成分を伴うDFSPの転移が示唆された．しかし，DFSPに特徴的な花むしろ様形態（storiform pattern）成分を欠き，他の肉腫疾患と鑑別を要した．RT-PCR法で遺伝子検索を行ったところ，DFSPに特異的なCOL1A1-PDGFB融合遺伝子が検出された．肺腫瘍に線維肉腫成分のみを認める症例では遺伝子検査は有用である． |
| Author | 羽生田, 正行 小林, 宣隆 沼波, 宏樹 山地, 雅之 北村, 淳子 田中, 元也 |
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| Copyright | 2014 特定非営利活動法人 日本呼吸器外科学会 |
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| References | 2. Mentzel T, Beham A, Katenkamp D, Dei Tos AP, Fletcher CD. Fibrosarcomatous ("high-grade") dermatofibrosarcoma protuberans: clinicopathologic and immunohistochemical study of a series of 41 cases with emphasis on prognostic significance. Am J Surg Pathol 1998; 22: 576-87. 16. Zorlu F, Yildiz F, Ertoy D, Atahan IL, Erden E. Dermatofibrosarcoma protuberans metastasizing to cavernous sinuses and lungs: a case report. Jpn J Clin Oncol 2001; 31: 557-61. 1. Lemm D, Mügge LO, Mentzel T, Höffken K. Current treatment options in dermatofibrosarcoma protuberans. J Cancer Res Clin Oncol 2009; 135: 653-65. 12. Al-Tamimi A, Zaheer S, Pierce CK, Osmany S, Sittampalam K. Recurrent dermatofibrosarcoma protuberans of the shoulder with rare distant abdominal metastasis detected by Fluorodeoxyglucose-Positron Emission Tomography/Computed Tomograpy (FDG-PET/CT). Sultan Qaboos Univ Med J 2012; 12: 371-4. 17. 橋本 隆, 福井 利光, 玉田 康彦, 松本 義也, 加藤 真司, 原 一夫. 線維肉腫様病変を伴った隆起性皮膚線維肉腫の多発性肺転移例. 日皮会誌 2003; 113: 437-42. 4. Goldblum JR, Reith JD, Weiss SW. Sarcomas arising in dermatofibrosarcoma protuberans: a reappraisal of biologic behavior in eighteen cases treated by wide local excision with extended clinical follow up. Am J Surg Pathol 2000; 24: 1125-30. 20. Stacchiotti S, Pedeutour F, Negri T, Conca E, Marrari A, Palassini E, et al. Dermatofibrosarcoma protuberans-derived fibrosarcoma: clinical history, biological profile and sensitivity to imatinib. Int J Cancer 2011; 129: 1761-72. 14. Diaz-Cascajo C. Myoid differentiation in dermatofibrosarcoma protuberans and its fibrosarcomatous variant. J Cutan Pathol 1997; 24: 197-8. 3. Bowne WB, Antonescu CR, Leung DH, Katz SC, Hawkins WG, Woodruff JM, et al. Dermatofibrosarcoma protuberans: A clinicopathologic analysis of patients treated and followed at a single institution. Cancer 2000; 88: 2711-20. 7. Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM, et al. Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet 1997; 15: 95-8. 6. Wang J, Morimitsu Y, Okamoto S, Hisaoka M, Ishida T, Sheng W, et al. COL1A1-PDGFB fusion transcripts in fibrosarcomatous areas of six dermatofibrosarcomas protuberans. J Mol Diagn 2000; 2: 47-52. 19. 大谷 哲史, 石井 寛, 橋永 一彦, 森永 亮太郎, 梅木 健二, 岸 建志, 他. 線維肉腫様病変を伴った隆起性皮膚線維肉腫肺転移の1例～本邦報告例の臨床的検討～. 日呼吸会誌 2008; 46: 253-7. 10. Basu S, Baghel NS. Recurrence of dermatofibrosarcoma protuberans in post-surgical scar detected by 18F-FDG-PET imaging. Hell J Nucl Med 2009; 12: 68. 24. Rutkowski P, Van Glabbeke M, Rankin CJ, Ruka W, Rubin BP, Debiec-Rychter M, et al. Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. J Clin Oncol 2010; 28: 1772-9. 13. Fortes DL, Allen MS, Lowe VJ, Shen KR, Wigle DA, Cassivi SD, et al. The sensitivity of 18F-fluorodeoxyglucose positron emission tomography in the evaluation of metastatic pulmonary nodules. Eur J Cardiothorac Surg 2008; 34: 1223-7. 22. Kim SM, Rha EY, Jung SN, Lim JS, Yoo G, Byeon JH. Dermatofibrosarcoma protuberans with pulmonary metastasis in the absence of local recurrence. Arch Plast Surg 2012; 39: 265-7. 11. Mattox AK, Mehta AI, Grossi PM, Cummings TJ, Adamson DC. Response of malignant scalp dermatofibrosarcoma to presurgical targeted growth factor inhibition. J Neurosurg 2010; 112: 965-77. 8. 久岡 正典, 橋本 洋. キメラ遺伝子と病理診断. 隆起性皮膚線維肉腫と線維肉腫のキメラ遺伝子. 病理と臨床 2003; 21: 577-83. 9. Llombart B, Serra-Guillén C, Monteagudo C, López Guerrero JA, Sanmartín O. Dermatofibrosarcoma protuberans: a comprehensive review and update on diagnosis and management. Semin Diagn Pathol 2013; 30: 13-28. 18. Uematsu Y, Fukai J, Tamura M, Owai Y, Obayashi S, Nakai K, et al. Distant metastasis of dermatofibrosarcoma protuberans of the scalp-case report-. Neurol Med Chir 2003; 43: 493-6. 5. Abbott JJ, Oliveira AM, Nascimento AG. The prognostic significance of fibrosarcomatous transformation in dermatofibrosarcoma protuberans. Am J Surg Pathol 2006; 30: 436-43. 23. 神山 由佳, 曽我部 陽子, 郡 隆之. 肺転移をきたした隆起性皮膚線維肉腫の1例. 臨床皮膚科 2013; 67: 53-7. 25. Thomford NR, Woolner LB, Clagett OT. The surgical treatment of metastatic tumors in the lungs. J Thorac Cardiovasc Surg 1965; 49: 357-63. 21. Gatlin JL, Hosch R, Khan M. Dermatofibrosarcoma protuberans of the scalp with fibrosarcomatous degeneration and pulmonary metastasis. J Clin Imaging Sci 2011; 1: 55. 15. Auer IA, Auer RN. Metastatic dermatofibrosarcoma protuberans mimicking meningioma. Clin Neuropathol 1998; 17: 190-3. |
| References_xml | – reference: 5. Abbott JJ, Oliveira AM, Nascimento AG. The prognostic significance of fibrosarcomatous transformation in dermatofibrosarcoma protuberans. Am J Surg Pathol 2006; 30: 436-43. – reference: 7. Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM, et al. Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet 1997; 15: 95-8. – reference: 1. Lemm D, Mügge LO, Mentzel T, Höffken K. Current treatment options in dermatofibrosarcoma protuberans. J Cancer Res Clin Oncol 2009; 135: 653-65. – reference: 9. Llombart B, Serra-Guillén C, Monteagudo C, López Guerrero JA, Sanmartín O. Dermatofibrosarcoma protuberans: a comprehensive review and update on diagnosis and management. Semin Diagn Pathol 2013; 30: 13-28. – reference: 3. Bowne WB, Antonescu CR, Leung DH, Katz SC, Hawkins WG, Woodruff JM, et al. Dermatofibrosarcoma protuberans: A clinicopathologic analysis of patients treated and followed at a single institution. Cancer 2000; 88: 2711-20. – reference: 15. Auer IA, Auer RN. Metastatic dermatofibrosarcoma protuberans mimicking meningioma. Clin Neuropathol 1998; 17: 190-3. – reference: 6. Wang J, Morimitsu Y, Okamoto S, Hisaoka M, Ishida T, Sheng W, et al. COL1A1-PDGFB fusion transcripts in fibrosarcomatous areas of six dermatofibrosarcomas protuberans. J Mol Diagn 2000; 2: 47-52. – reference: 8. 久岡 正典, 橋本 洋. キメラ遺伝子と病理診断. 隆起性皮膚線維肉腫と線維肉腫のキメラ遺伝子. 病理と臨床 2003; 21: 577-83. – reference: 4. Goldblum JR, Reith JD, Weiss SW. Sarcomas arising in dermatofibrosarcoma protuberans: a reappraisal of biologic behavior in eighteen cases treated by wide local excision with extended clinical follow up. Am J Surg Pathol 2000; 24: 1125-30. – reference: 24. Rutkowski P, Van Glabbeke M, Rankin CJ, Ruka W, Rubin BP, Debiec-Rychter M, et al. Imatinib mesylate in advanced dermatofibrosarcoma protuberans: pooled analysis of two phase II clinical trials. J Clin Oncol 2010; 28: 1772-9. – reference: 10. Basu S, Baghel NS. Recurrence of dermatofibrosarcoma protuberans in post-surgical scar detected by 18F-FDG-PET imaging. Hell J Nucl Med 2009; 12: 68. – reference: 2. Mentzel T, Beham A, Katenkamp D, Dei Tos AP, Fletcher CD. Fibrosarcomatous ("high-grade") dermatofibrosarcoma protuberans: clinicopathologic and immunohistochemical study of a series of 41 cases with emphasis on prognostic significance. Am J Surg Pathol 1998; 22: 576-87. – reference: 22. Kim SM, Rha EY, Jung SN, Lim JS, Yoo G, Byeon JH. Dermatofibrosarcoma protuberans with pulmonary metastasis in the absence of local recurrence. Arch Plast Surg 2012; 39: 265-7. – reference: 12. Al-Tamimi A, Zaheer S, Pierce CK, Osmany S, Sittampalam K. Recurrent dermatofibrosarcoma protuberans of the shoulder with rare distant abdominal metastasis detected by Fluorodeoxyglucose-Positron Emission Tomography/Computed Tomograpy (FDG-PET/CT). Sultan Qaboos Univ Med J 2012; 12: 371-4. – reference: 17. 橋本 隆, 福井 利光, 玉田 康彦, 松本 義也, 加藤 真司, 原 一夫. 線維肉腫様病変を伴った隆起性皮膚線維肉腫の多発性肺転移例. 日皮会誌 2003; 113: 437-42. – reference: 18. Uematsu Y, Fukai J, Tamura M, Owai Y, Obayashi S, Nakai K, et al. Distant metastasis of dermatofibrosarcoma protuberans of the scalp-case report-. Neurol Med Chir 2003; 43: 493-6. – reference: 21. Gatlin JL, Hosch R, Khan M. Dermatofibrosarcoma protuberans of the scalp with fibrosarcomatous degeneration and pulmonary metastasis. J Clin Imaging Sci 2011; 1: 55. – reference: 16. Zorlu F, Yildiz F, Ertoy D, Atahan IL, Erden E. Dermatofibrosarcoma protuberans metastasizing to cavernous sinuses and lungs: a case report. Jpn J Clin Oncol 2001; 31: 557-61. – reference: 25. Thomford NR, Woolner LB, Clagett OT. The surgical treatment of metastatic tumors in the lungs. J Thorac Cardiovasc Surg 1965; 49: 357-63. – reference: 20. Stacchiotti S, Pedeutour F, Negri T, Conca E, Marrari A, Palassini E, et al. Dermatofibrosarcoma protuberans-derived fibrosarcoma: clinical history, biological profile and sensitivity to imatinib. Int J Cancer 2011; 129: 1761-72. – reference: 19. 大谷 哲史, 石井 寛, 橋永 一彦, 森永 亮太郎, 梅木 健二, 岸 建志, 他. 線維肉腫様病変を伴った隆起性皮膚線維肉腫肺転移の1例～本邦報告例の臨床的検討～. 日呼吸会誌 2008; 46: 253-7. – reference: 14. Diaz-Cascajo C. Myoid differentiation in dermatofibrosarcoma protuberans and its fibrosarcomatous variant. J Cutan Pathol 1997; 24: 197-8. – reference: 11. Mattox AK, Mehta AI, Grossi PM, Cummings TJ, Adamson DC. Response of malignant scalp dermatofibrosarcoma to presurgical targeted growth factor inhibition. J Neurosurg 2010; 112: 965-77. – reference: 13. Fortes DL, Allen MS, Lowe VJ, Shen KR, Wigle DA, Cassivi SD, et al. The sensitivity of 18F-fluorodeoxyglucose positron emission tomography in the evaluation of metastatic pulmonary nodules. Eur J Cardiothorac Surg 2008; 34: 1223-7. – reference: 23. 神山 由佳, 曽我部 陽子, 郡 隆之. 肺転移をきたした隆起性皮膚線維肉腫の1例. 臨床皮膚科 2013; 67: 53-7. |
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| Snippet | 紡錘形細胞から成る肺腫瘍の鑑別診断はときに困難である．症例は45歳男性．39歳時に額部の皮膚腫瘤を切除された．隆起性皮膚線維肉腫（DFSP）の亜型である，線維肉腫成... |
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| SubjectTerms | COL1A1-PDGFB融合遺伝子 メシル酸イマチニブ 線維肉腫 肺転移 隆起性皮膚線維肉腫 |
| Title | COL1A1-PDGFB融合遺伝子で診断しえた線維肉腫成分を伴う隆起性皮膚線維肉腫肺転移の1例 |
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