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翻译者:赵倩倩,西京医院临床免疫科
背 景:
皮肌炎是以近端肌肉无力,肌肉炎症和典型皮肤发现为特征的自身免疫性肌病。
这是一种罕见的疾病,发病率约为1 / 100,000。大约15-30%的成人发病病例是由潜在的恶性肿瘤引起的,皮肌炎可能是未确诊癌症的首要症状,主要表现在抗转录中介因子1γ(抗-TIF-1γ)抗体存在。TIF-1γ是转录辅因子,其牵涉TGFβ信号传导途径,其控制细胞增殖,分化,凋亡和肿瘤发生。
研究表明,它的表达与更年轻的年龄,更高的肿瘤分级,更多的雌激素受体阴性,大于2cm的肿瘤以及早期乳腺癌预后不良的倾向相关。还没有提出抗TIF-1γ抗体与预后之间的关联。
案例介绍:
我们报告了一例43岁的绝经前女性患有系统性风湿性疾病的症状,其中最突出的是典型的皮疹和肌肉疼痛。经过一系列调查后,该患者被诊断患有抗TIF-1γ阳性皮肌炎并同时患有三阴性乳腺癌(cT1c N3c M0)作为潜在原因。立即进行静脉内皮质类固醇激素治疗缓解症状,并开始抗癌治疗。考虑到肿瘤分期,采用4个疗程的AC(多柔比星/环磷酰胺)和4个疗程的紫杉醇/卡铂进行新辅助治疗。然而,没有记录肿瘤消退,选择放疗作为确定性治疗。
结 论:
早期检测抗TIF-1γ自身抗体有助于快速诊断肿瘤相关的皮肌炎并能立即进行抗癌治疗。我们证明了抗TIF-1γ抗体在肿瘤相关性皮肌炎的诊断中的新兴作用。此外,我们提出抗TIF-1γ抗体作为早期乳腺癌患者的预后标志物的潜在作用。
参考文献:
Dermatomyositis withanti-TIF-1γ antibodies as a presenting symptom of underlying triple-negativebreast cancer: a case report.
BMC Cancer. 2016 Aug 25;16(1):684. doi: 10.1186/s12885-016-2715-1.
Dermatomyositis is an autoimmune myopathy characterized byproximal muscle weakness, muscle inflammation, and typical skin findings. It isa rare disease with an incidence of ~1/100 000. About 15-30 % ofadult-onset cases are caused by underlying malignancy and dermatomyositis canbe the first symptom of undiagnosed cancer, mainly in the case ofanti-transcription intermediary factor 1γ (anti-TIF-1γ) antibodies presence.TIF-1γ is a transcriptional cofactor which is implicated in TGFβ signalingpathway that controls cell proliferation, differentiation, apoptosis, andtumorigenesis. Its expression was shown to be associated with younger age,higher tumor grade, more estrogen receptor negativity, tumors larger than2 cm, and tendency towards poor outcome in early breast cancer. Noassociation between anti-TIF-1γ antibodies and prognosis has been proposed yet.
We report a case of a 43-year-old premenopausal womanpresenting with the symptoms of systemic rheumatic disease, the mostprominent being a typical skin rash and muscle pain. After a series ofinvestigations, the patient was diagnosed with anti-TIF-1γ positivedermatomyositis and concurrent triple-negative breast cancer (cT1c N3c M0) asan underlying cause. Immediate intravenous corticosteroid therapy relieved thesymptoms and enabled anticancer therapy to be commenced. Considering the tumorstage, neoadjuvant therapy with 4 courses of AC (Doxorubicin/Cyclophosphamide)followed by 4 courses of Paclitaxel/Carboplatin was administered. However, notumor regression was documented and radiotherapy was chosen as the definitivetreatment.
Earlydetection of anti-TIF-1γ autoantibodies can contribute to a rapid diagnosisof tumor-associated dermatomyositis and enable immediate anticancertreatment. We demonstrate the emerging role of anti-TIF-1γ antibodies in thediagnostics of tumor-associated dermatomyositis. Furthermore, wepropose a potential role of anti-TIF-1γ antibodies as a prognostic marker inearly breast cancer patients.
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