目的 探讨乳腺韧带样纤维瘤病(desmoid fibromatosis of the breast, DFB)的临床病理学特征、诊断、鉴别诊断和分子遗传学特征。方法 收集26例DFB患者的临床病理资料及预后信息,分析其临床特点、组织学、免疫表型和分子学特征。结果 26...目的 探讨乳腺韧带样纤维瘤病(desmoid fibromatosis of the breast, DFB)的临床病理学特征、诊断、鉴别诊断和分子遗传学特征。方法 收集26例DFB患者的临床病理资料及预后信息,分析其临床特点、组织学、免疫表型和分子学特征。结果 26例患者均为女性,年龄范围13~69岁,平均36.8岁,中位年龄34.5岁。发生于左侧乳腺10例,右侧乳腺14例,双侧乳腺2例,临床均以发现乳腺孤立无痛性肿块就诊,3例伴有乳头凹陷。大体见肿物界限不清,质韧-硬,镜下见肿物由增生的梭形细胞和多少不等的胶原纤维组成,与周围乳腺组织界限不清,呈指突样浸润乳腺导管和小叶。肿瘤细胞呈梭形或卵圆形,排列呈束状、编织状,形态温和,无明显多形性、不典型性,细胞核染色质稀疏或呈空泡状,可见小核仁,核分裂象罕见。免疫表型:肿瘤细胞β-catenin核阳性(20/26),SMA不同程度阳性(20/26),desmin局灶阳性(6/26),CKpan、CK5/6、p63、CD34、CD10、S-100均阴性,Ki67增殖指数5%~10%。Sanger测序检测到CTNNB1基因第3外显子突变(18/26),其中15例为T41A位点突变(83.3%),2例为S45P位点突变(11.1%),1例S45F位点突变(5.6%)。其中2例患者同时患有家族性腺瘤性息肉病。23例行局部肿块切除,2例行乳腺单纯切除,1例粗针穿刺诊断后未治疗。20例患者获得随访,随访时间为1~108个月,均未复发。结论 DFB罕见,易误诊为恶性,应与多种发生于乳腺的梭形细胞增生性病变鉴别,需结合组织学、免疫表型及基因检测等明确诊断。展开更多
目的:探讨韧带样纤维瘤病的临床特点、误诊原因及防范措施。方法:对2022年10月收治的1例曾被误诊为增生性肌炎的韧带样纤维瘤病患者的临床资料进行回顾性分析。结果:1例因左大腿快速增长的疼痛性肿物入院患者,曾误诊为增生性肌炎,入院...目的:探讨韧带样纤维瘤病的临床特点、误诊原因及防范措施。方法:对2022年10月收治的1例曾被误诊为增生性肌炎的韧带样纤维瘤病患者的临床资料进行回顾性分析。结果:1例因左大腿快速增长的疼痛性肿物入院患者,曾误诊为增生性肌炎,入院后经多学科医师会诊,给予手术治疗,术后病理及免疫组织化学检查明确诊断韧带样纤维瘤病,术后恢复良好,尚在随访中,无复发。结论:韧带样纤维瘤病的临床误诊率高,病理及免疫组织化学检查可明确诊断。临床医师应加强对其认识,认真鉴别诊断,以减少和避免该病误诊误治。Objective: To investigate the clinical features, causes of misdiagnosis and preventive measures of desmoid fibromatosis. Methods: The clinical data of a patient with desmoid fibromatosis who was misdiagnosed as proliferative myositis in October 2022 were analyzed retrospectively. Results: One patient was misdiagnosed as proliferative myositis because of a painful mass growing rapidly in his left thigh. After admission, he was consulted by a multi-disciplinary physician and was given surgical treatment, the diagnosis of desmoid fibromatosis was confirmed by pathology and immuno-histochemistry after operation. The postoperative recovery is good and still in follow-up, with no recurrence. Conclusions: The misdiagnosis rate of desmoid fibromatosis is high. The diagnosis can be made by pathological and immunohistochemical examination. Clinicians should pay more attention to its differential diagnosis so as to avoid misdiagnosis and mistreatment.展开更多
文摘目的 探讨乳腺韧带样纤维瘤病(desmoid fibromatosis of the breast, DFB)的临床病理学特征、诊断、鉴别诊断和分子遗传学特征。方法 收集26例DFB患者的临床病理资料及预后信息,分析其临床特点、组织学、免疫表型和分子学特征。结果 26例患者均为女性,年龄范围13~69岁,平均36.8岁,中位年龄34.5岁。发生于左侧乳腺10例,右侧乳腺14例,双侧乳腺2例,临床均以发现乳腺孤立无痛性肿块就诊,3例伴有乳头凹陷。大体见肿物界限不清,质韧-硬,镜下见肿物由增生的梭形细胞和多少不等的胶原纤维组成,与周围乳腺组织界限不清,呈指突样浸润乳腺导管和小叶。肿瘤细胞呈梭形或卵圆形,排列呈束状、编织状,形态温和,无明显多形性、不典型性,细胞核染色质稀疏或呈空泡状,可见小核仁,核分裂象罕见。免疫表型:肿瘤细胞β-catenin核阳性(20/26),SMA不同程度阳性(20/26),desmin局灶阳性(6/26),CKpan、CK5/6、p63、CD34、CD10、S-100均阴性,Ki67增殖指数5%~10%。Sanger测序检测到CTNNB1基因第3外显子突变(18/26),其中15例为T41A位点突变(83.3%),2例为S45P位点突变(11.1%),1例S45F位点突变(5.6%)。其中2例患者同时患有家族性腺瘤性息肉病。23例行局部肿块切除,2例行乳腺单纯切除,1例粗针穿刺诊断后未治疗。20例患者获得随访,随访时间为1~108个月,均未复发。结论 DFB罕见,易误诊为恶性,应与多种发生于乳腺的梭形细胞增生性病变鉴别,需结合组织学、免疫表型及基因检测等明确诊断。
文摘目的:探讨韧带样纤维瘤病的临床特点、误诊原因及防范措施。方法:对2022年10月收治的1例曾被误诊为增生性肌炎的韧带样纤维瘤病患者的临床资料进行回顾性分析。结果:1例因左大腿快速增长的疼痛性肿物入院患者,曾误诊为增生性肌炎,入院后经多学科医师会诊,给予手术治疗,术后病理及免疫组织化学检查明确诊断韧带样纤维瘤病,术后恢复良好,尚在随访中,无复发。结论:韧带样纤维瘤病的临床误诊率高,病理及免疫组织化学检查可明确诊断。临床医师应加强对其认识,认真鉴别诊断,以减少和避免该病误诊误治。Objective: To investigate the clinical features, causes of misdiagnosis and preventive measures of desmoid fibromatosis. Methods: The clinical data of a patient with desmoid fibromatosis who was misdiagnosed as proliferative myositis in October 2022 were analyzed retrospectively. Results: One patient was misdiagnosed as proliferative myositis because of a painful mass growing rapidly in his left thigh. After admission, he was consulted by a multi-disciplinary physician and was given surgical treatment, the diagnosis of desmoid fibromatosis was confirmed by pathology and immuno-histochemistry after operation. The postoperative recovery is good and still in follow-up, with no recurrence. Conclusions: The misdiagnosis rate of desmoid fibromatosis is high. The diagnosis can be made by pathological and immunohistochemical examination. Clinicians should pay more attention to its differential diagnosis so as to avoid misdiagnosis and mistreatment.
