Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas.
Int J Gynecol Pathol. 2023 Mar 1;42(2):143-146. doi: 10.1097/PGP.0000000000000850. Epub 2022 Dec 6.
Uterine collagen type 1 alpha 1 (COL1A1) and platelet-derived growth factor beta chain (PDGFB) fusion associated fibrosarcoma is a recently described entity characterized by a specific translocation t(17;22) (q22;q13) leading to the formation of COL1A1-PDGFB fusion transcripts that are typically associated with dermatofibrosarcoma protuberans. So far, only 4 cases of COL1A1-PDGFB fusion associated fibrosarcoma involving the female reproductive system have been reported in the literature. All cases showed strong diffuse expression of CD34. COL1A1-PDGFB fusion associated fibrosarcomas are aggressive tumors with a propensity for chemotherapy resistance and a poor prognosis. We are reporting the fifth case of a uterine COL1A1-PDGFB fusion associated fibrosarcoma. A 58-yr-old female presented with a large uterine mass with extension into bilateral pelvic sidewalls, mesentery of rectosigmoid colon and the vagina. A hysterectomy, bilateral salpingo-oophorectomy, and tumor debulking procedure was performed. Microscopic evaluation revealed a mitotically active cellular spindle cell neoplasm with focal osteoclast like giant cells, myxoid changes and necrosis. CD34 was diffusely and strongly positive throughout the tumor. Next-generation sequencing showed presence of the COL1A1-PDGFB fusion. The patient was treated with multiple chemotherapy regimens, however, progressed under therapy with worsening symptoms and development of extensive pelvic disease. She died of disease 13 mo after the initial diagnosis. In summary, uterine COL1A1-PDGFB fusion associated fibrosarcomas are rare tumors with aggressive clinical behavior that need to be considered in the differential diagnosis of CD34-positive uterine spindle cell neoplasms. Novel treatment options may include imatinib, a tyrosine kinase inhibitor used for treatment of advanced and unresectable dermatofibrosarcoma protuberans that was given in 1 uterine sarcoma case and showed promising initial response.
子宫胶原 1 型α 1（COL1A1）和血小板衍生生长因子β链（PDGFB）融合相关纤维肉瘤是一种最近描述的实体，其特征在于特定的易位 t（17；22）（q22；q13）导致 COL1A1-PDGFB 融合转录本的形成，这些转录本通常与隆突性皮肤纤维肉瘤相关。到目前为止，文献中仅报道了 4 例涉及女性生殖系统的 COL1A1-PDGFB 融合相关纤维肉瘤。所有病例均表现出强烈的弥漫性 CD34 表达。COL1A1-PDGFB 融合相关纤维肉瘤是具有侵袭性的肿瘤，具有化疗耐药性和不良预后的倾向。我们报告了第五例子宫 COL1A1-PDGFB 融合相关纤维肉瘤。一名 58 岁女性因子宫大肿块伴有双侧骨盆侧壁、直肠乙状结肠系膜和阴道延伸而就诊。进行了子宫切除术、双侧输卵管卵巢切除术和肿瘤切除术。显微镜评估显示具有局灶性破骨样巨细胞、黏液样变和坏死的有丝分裂活性细胞性梭形细胞肿瘤。CD34 在整个肿瘤中弥漫且强烈阳性。下一代测序显示存在 COL1A1-PDGFB 融合。该患者接受了多种化疗方案治疗，但在治疗过程中病情进展，症状恶化，广泛的盆腔疾病发展。她在最初诊断后 13 个月死于疾病。总之，子宫 COL1A1-PDGFB 融合相关纤维肉瘤是罕见的具有侵袭性临床行为的肿瘤，在 CD34 阳性子宫梭形细胞肿瘤的鉴别诊断中需要考虑。新的治疗选择可能包括伊马替尼，一种用于治疗晚期和不可切除的隆突性皮肤纤维肉瘤的酪氨酸激酶抑制剂，在 1 例子宫肉瘤病例中使用，并显示出有希望的初始反应。
