腹腔转移性纤维肉瘤型隆突性皮肤纤维肉瘤1例报道并文献复习_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

崔贤镇 , 陆杨 , 何鑫 ,  张红英

四川大学华西医院病理科（成都 610041）;

Corresponding author：

张红英, Email: hy_zhang@scu.edu.cn

Keywords：

纤维肉瘤型隆突性皮肤纤维肉瘤; 腹腔转移; COL1A1::PDGFB基因融合; 诊断

DOI：

10.7507/1007-9424.202408110

Video：

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目的总结1例腹腔转移性纤维肉瘤型隆突性皮肤纤维肉瘤（fibrosarcomatous dermatofibrosarcoma protuberans，FS-DFSP）的临床病理特征、诊断与治疗经验，并进行文献复习。方法回顾性分析四川大学华西医院2023年诊断的1例腹腔转移性FS-DFSP病例，总结其临床、组织形态学、免疫组织化学以及分子遗传学特征，并回顾相关文献。结果本例患者为51岁女性，临床表现为“反复腹痛6个月”。MRI检查示腹腔及髋部包块。腹腔肿块镜下观察见肿瘤间质呈黏液样变，含较多薄壁血管；肿瘤主要由中度异型性的短梭形或卵圆形细胞组成，呈不规则排列。核分裂象约10个/10 HPF，未见出血及坏死。免疫组织化学检查示CD34、Desmin、S100、CD117和DOG1均为阴性。FISH检出PDGFB基因重排及COL1A1::PDGFB基因融合。诊断为腹腔FS-DFSP。髋部包块镜下与腹腔肿瘤形态相似，结合免疫组织化学、FISH，并联系临床病史，最终考虑为腹腔转移性FS-DFSP。文献复习显示，已报道的单一腹腔转移性DFSP病例共6例，其中4例为腹腔器官（胰腺和肝脏）转移，2例为单纯腹腔转移，可获得转移灶形态学资料的4例均表现为典型FS-DFSP。结论单一腹腔转移性FS-DFSP罕见，本病例具有不典型的形态学及免疫表型，难以选择适当的分子检测项目辅助诊断，需要与好发于腹腔、腹膜后伴有黏液样变的多种高级别肉瘤相鉴别，其精准诊断极具挑战性。

1.	陆杨, 张红英. 重视分子病理在隆突性皮肤纤维肉瘤临床诊疗中的应用. 临床与实验病理学杂志, 2024, 40(8): 785-789.
2.	Mentzel T, Pedeutour F. Dermatofibrosarcoma protuberans. in: 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.
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.
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.
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.
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.
13.	陈敏, 陈玉梅, 陆杨, 等. 荧光原位杂交检测COL1A1-PDGFB隐匿性融合的隆突性皮肤纤维肉瘤临床病理及遗传学分析. 中华病理学杂志, 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. 陆杨, 张红英. 重视分子病理在隆突性皮肤纤维肉瘤临床诊疗中的应用. 临床与实验病理学杂志, 2024, 40(8): 785-789.
2. Mentzel T, Pedeutour F. Dermatofibrosarcoma protuberans. in: 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.
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.
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.
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.
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.
13. 陈敏, 陈玉梅, 陆杨, 等. 荧光原位杂交检测COL1A1-PDGFB隐匿性融合的隆突性皮肤纤维肉瘤临床病理及遗传学分析. 中华病理学杂志, 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.

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