腹腔轉移性纖維肉瘤型隆突性皮膚纖維肉瘤1例報道并文獻復習_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

崔賢鎮 , 陸楊 , 何鑫 ,  張紅英

四川大學華西醫院病理科（成都 610041）;

Corresponding?author：

張紅英, Email: hy_zhang@scu.edu.cn

Keywords：

纖維肉瘤型隆突性皮膚纖維肉瘤; 腹腔轉移; COL1A1::PDGFB基因融合; 診斷

DOI：

10.7507/1007-9424.202408110

Video：

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目的總結1例腹腔轉移性纖維肉瘤型隆突性皮膚纖維肉瘤（fibrosarcomatous dermatofibrosarcoma protuberans，FS-DFSP）的臨床病理特征、診斷與治療經驗，并進行文獻復習。方法回顧性分析四川大學華西醫院2023年診斷的1例腹腔轉移性FS-DFSP病例，總結其臨床、組織形態學、免疫組織化學以及分子遺傳學特征，并回顧相關文獻。結果本例患者為51歲女性，臨床表現為“反復腹痛6個月”。MRI檢查示腹腔及髖部包塊。腹腔腫塊鏡下觀察見腫瘤間質呈黏液樣變，含較多薄壁血管；腫瘤主要由中度異型性的短梭形或卵圓形細胞組成，呈不規則排列。核分裂象約10個/10 HPF，未見出血及壞死。免疫組織化學檢查示CD34、結蛋白、S100、CD117和DOG1均為陰性。熒光原位雜交（fluorescence in situ hybridization，FISH）檢出PDGFB基因重排及COL1A1::PDGFB基因融合。診斷為腹腔FS-DFSP。髖部包塊鏡下與腹腔腫瘤形態相似，結合免疫組織化學、FISH，并聯系臨床病史，最終考慮為腹腔轉移性FS-DFSP。文獻復習顯示，已報道的單一腹腔轉移性FS-DFSP病例共6例，其中4例為腹腔器官（胰腺和肝臟）轉移，2例為單純腹腔轉移，可獲得轉移灶形態學資料的4例均表現為典型FS-DFSP。結論單一腹腔轉移性FS-DFSP罕見，本病例具有不典型的形態學及免疫表型，難以選擇適當的分子檢測項目輔助診斷，需要與好發于腹腔、腹膜后伴有黏液樣變的多種高級別肉瘤相鑒別，其精準診斷極具挑戰性。

Citation： 崔賢鎮, 陸楊, 何鑫, 張紅英. 腹腔轉移性纖維肉瘤型隆突性皮膚纖維肉瘤1例報道并文獻復習. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2025, 32(1): 104-108. doi: 10.7507/1007-9424.202408110 Copy

1.	陸楊, 張紅英. 重視分子病理在隆突性皮膚纖維肉瘤臨床診療中的應用. 臨床與實驗病理學雜志, 2024, 40(8): 785-789.
2.	Mentzel T, Pedeutour F. Dermatofibrosarcoma protuberans//WHO classification of tumours of soft tissue and bone. 5th Edition. Lyon (France): International Agency for Research on Cancer, 2020: 100-103.
3.	Cai H, Wang Y, Wu J, et al. Dermatofibrosarcoma protuberans: clinical diagnoses and treatment results of 260 cases in China. J Surg Oncol, 2012, 105(2): 142-148.
4.	Murata H, Ohashi A, Ashida A, et al. Fibrosarcomatous variant of dermatofibrosarcoma protuberans with pancreatic metastasis. Int J Dermatol, 2014, 53(2): e140-e142. doi: 10.1111/j.1365-4632.2012.05698.x.
5.	Hayakawa K, Matsumoto S, Ae K, et al. Risk factors for distant metastasis of dermatofibrosarcoma protuberans. J Orthop Traumatol, 2016, 17(3): 261-266.
6.	Soleymani T, Ni C, Laury A, et al. Massively metastatic dermatofibrosarcoma protuberans with fibrosarcomatous transformation years after surgical resection. Dermatol Surg, 2018, 44(2): 315-318.
7.	Chilukuri DS, Premkumar P, Venkitaraman B, et al. Pancreatic metastasis of dermatofibrosarcoma protuberans: a rare case. BMJ Case Rep, 2020, 13(1): e232614. doi: 10.1136/bcr-2019-232614.
8.	Jing C, Zhang H, Zhang X, et al. Dermatofibrosarcoma protuberans: a clinicopathologic and therapeutic analysis of 254 cases at a single institution. Dermatol Surg, 2021, 47(2): e26-e30. doi: 10.1097/DSS.0000000000002578.
9.	Vitiello GA, Lee AY, Berman RS. Dermatofibrosarcoma protuberans: what is this? Surg Clin North Am, 2022, 102(4): 657-665.
10.	Lim SX, Ramaiya A, Levell NJ, et al. Review of dermatofibrosarcoma protuberans. Clin Exp Dermatol, 2023, 48(4): 297-302.
11.	Mancari R, Cioffi R, Magazzino F, et al. Dermatofibrosarcoma protuberans of the vulva: a review of the MITO Rare Cancer Group. Cancers (Basel), 2024, 16(1): 222. doi: 10.3390/cancers16010222.
12.	Lu Y, Chen X, Zeng W, et al. COL1A1: : PDGFB fusion uterine sarcoma with a TERT promoter mutation. Genes Chromosomes Cancer, 2024, 63(1): e23210. doi: 10.1002/gcc.23210.
13.	陳敏, 陳玉梅, 陸楊, 等. 熒光原位雜交檢測COL1A1-PDGFB隱匿性融合的隆突性皮膚纖維肉瘤臨床病理及遺傳學分析. 中華病理學雜志, 2023, 52(1): 13-18.
14.	Stacchiotti S, Astolfi A, Gronchi A, et al. Evolution of dermatofibrosarcoma protuberans to DFSP-derived fibrosarcoma: an event marked by epithelial-mesenchymal transition-like process and 22q loss. Mol Cancer Res, 2016, 14(9): 820-829.
15.	Lu Y, Li T, Chen M, et al. Coamplification of 12q15 and 12p13 and homozygous CDKN2A/2B deletion: synergistic role of fibrosarcomatous transformation in dermatofibrosarcoma protuberans with a cryptic COL1A1-PDGFB fusion. Virchows Arch, 2022, 481(2): 313-319.
16.	Abbott JJ, Oliveira AM, Nascimento AG. The prognostic significance of fibrosarcomatous transformation in dermatofibrosarcoma protuberans. Am J Surg Pathol, 2006, 30(4): 436-443.
17.	Takahira T, Oda Y, Tamiya S, et al. Microsatellite instability and p53 mutation associated with tumor progression in dermatofibrosarcoma protuberans. Hum Pathol, 2004, 35(2): 240-245.
18.	Hiraki-Hotokebuchi Y, Yamada Y, Kohashi K, et al. Alteration of PDGFRβ-Akt-mTOR pathway signaling in fibrosarcomatous transformation of dermatofibrosarcoma protuberans. Hum Pathol, 2017, 67: 60-68.

1. 陸楊, 張紅英. 重視分子病理在隆突性皮膚纖維肉瘤臨床診療中的應用. 臨床與實驗病理學雜志, 2024, 40(8): 785-789.
2. Mentzel T, Pedeutour F. Dermatofibrosarcoma protuberans//WHO classification of tumours of soft tissue and bone. 5th Edition. Lyon (France): International Agency for Research on Cancer, 2020: 100-103.
3. Cai H, Wang Y, Wu J, et al. Dermatofibrosarcoma protuberans: clinical diagnoses and treatment results of 260 cases in China. J Surg Oncol, 2012, 105(2): 142-148.
4. Murata H, Ohashi A, Ashida A, et al. Fibrosarcomatous variant of dermatofibrosarcoma protuberans with pancreatic metastasis. Int J Dermatol, 2014, 53(2): e140-e142. doi: 10.1111/j.1365-4632.2012.05698.x.
5. Hayakawa K, Matsumoto S, Ae K, et al. Risk factors for distant metastasis of dermatofibrosarcoma protuberans. J Orthop Traumatol, 2016, 17(3): 261-266.
6. Soleymani T, Ni C, Laury A, et al. Massively metastatic dermatofibrosarcoma protuberans with fibrosarcomatous transformation years after surgical resection. Dermatol Surg, 2018, 44(2): 315-318.
7. Chilukuri DS, Premkumar P, Venkitaraman B, et al. Pancreatic metastasis of dermatofibrosarcoma protuberans: a rare case. BMJ Case Rep, 2020, 13(1): e232614. doi: 10.1136/bcr-2019-232614.
8. Jing C, Zhang H, Zhang X, et al. Dermatofibrosarcoma protuberans: a clinicopathologic and therapeutic analysis of 254 cases at a single institution. Dermatol Surg, 2021, 47(2): e26-e30. doi: 10.1097/DSS.0000000000002578.
9. Vitiello GA, Lee AY, Berman RS. Dermatofibrosarcoma protuberans: what is this? Surg Clin North Am, 2022, 102(4): 657-665.
10. Lim SX, Ramaiya A, Levell NJ, et al. Review of dermatofibrosarcoma protuberans. Clin Exp Dermatol, 2023, 48(4): 297-302.
11. Mancari R, Cioffi R, Magazzino F, et al. Dermatofibrosarcoma protuberans of the vulva: a review of the MITO Rare Cancer Group. Cancers (Basel), 2024, 16(1): 222. doi: 10.3390/cancers16010222.
12. Lu Y, Chen X, Zeng W, et al. COL1A1: : PDGFB fusion uterine sarcoma with a TERT promoter mutation. Genes Chromosomes Cancer, 2024, 63(1): e23210. doi: 10.1002/gcc.23210.
13. 陳敏, 陳玉梅, 陸楊, 等. 熒光原位雜交檢測COL1A1-PDGFB隱匿性融合的隆突性皮膚纖維肉瘤臨床病理及遺傳學分析. 中華病理學雜志, 2023, 52(1): 13-18.
14. Stacchiotti S, Astolfi A, Gronchi A, et al. Evolution of dermatofibrosarcoma protuberans to DFSP-derived fibrosarcoma: an event marked by epithelial-mesenchymal transition-like process and 22q loss. Mol Cancer Res, 2016, 14(9): 820-829.
15. Lu Y, Li T, Chen M, et al. Coamplification of 12q15 and 12p13 and homozygous CDKN2A/2B deletion: synergistic role of fibrosarcomatous transformation in dermatofibrosarcoma protuberans with a cryptic COL1A1-PDGFB fusion. Virchows Arch, 2022, 481(2): 313-319.
16. Abbott JJ, Oliveira AM, Nascimento AG. The prognostic significance of fibrosarcomatous transformation in dermatofibrosarcoma protuberans. Am J Surg Pathol, 2006, 30(4): 436-443.
17. Takahira T, Oda Y, Tamiya S, et al. Microsatellite instability and p53 mutation associated with tumor progression in dermatofibrosarcoma protuberans. Hum Pathol, 2004, 35(2): 240-245.
18. Hiraki-Hotokebuchi Y, Yamada Y, Kohashi K, et al. Alteration of PDGFRβ-Akt-mTOR pathway signaling in fibrosarcomatous transformation of dermatofibrosarcoma protuberans. Hum Pathol, 2017, 67: 60-68.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

腹腔轉移性纖維肉瘤型隆突性皮膚纖維肉瘤1例報道并文獻復習

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