病例报告：以皮肌炎为首发表现的乳腺癌

文献信息

中文摘要

背景： 癌症相关性皮肌炎（CADM）是一种罕见的副肿瘤综合征，以炎性肌病和特征性皮肤表现为特点。早期识别潜在的恶性肿瘤对于改善患者预后至关重要。
病例介绍： 我们报告一例48岁女性，最初以皮肌炎作为乳腺癌的首发表现。她因进行性吞咽困难、累及面部和颈部的紫红色水肿性红斑以及四肢近端肌无力入院。该患者此前曾在另一家机构被诊断为特发性皮肌炎并接受糖皮质激素治疗；然而，其症状无明显改善。在我院进一步评估显示肌酶水平显著升高。自身抗体检测显示抗Jo-1抗体弱阳性，抗Ro-52抗体阳性。皮肤和肌肉活检均支持皮肌炎的诊断。随后进行的全面恶性肿瘤筛查发现右乳浸润性癌伴腋窝淋巴结转移。在接受糖皮质激素联合两个周期由紫杉醇和铂类药物组成的新辅助化疗后，患者的皮肤病变明显消退，肌力改善，吞咽困难显著缓解。她随后接受了乳腺癌根治术并辅以放疗，随访期间病情保持稳定。
结论： 文献回顾表明，年龄>40岁、吞咽困难、疾病快速进展以及抗转录中介因子1-γ（抗TIF1-γ）抗体阳性是CADM的重要危险因素。所有新诊断的皮肌炎患者均应进行全面的恶性肿瘤筛查，尤其是针对乳腺癌、肺癌、卵巢癌和鼻咽癌等常见相关恶性肿瘤。对于对常规皮肌炎治疗反应不佳的患者，临床医生应高度警惕隐匿性恶性肿瘤。早期识别并有效治疗潜在的恶性肿瘤对于改善CADM的预后至关重要。

英文摘要

BACKGROUND: Cancer-associated dermatomyositis (CADM) is a rare paraneoplastic syndrome characterized by inflammatory myopathy and distinctive cutaneous manifestations. Early recognition of an underlying malignancy is essential for improving patient outcomes.
CASE PRESENTATION: We report the case of a 48-year-old woman who initially presented with dermatomyositis as the first manifestation of breast cancer. She was admitted with progressive dysphagia, violaceous edematous erythema involving the face and neck, and proximal muscle weakness of the extremities. The patient had previously been diagnosed with idiopathic dermatomyositis at another institution and treated with glucocorticoids; however, her symptoms showed no significant improvement. Further evaluation at our hospital revealed markedly elevated muscle enzyme levels. Autoantibody testing demonstrated weak positivity for anti-Jo-1 antibodies and positivity for anti-Ro-52 antibodies. Both skin and muscle biopsies supported the diagnosis of dermatomyositis. Comprehensive malignancy screening subsequently identified invasive carcinoma of the right breast with axillary lymph node metastasis. Following treatment with glucocorticoids combined with two cycles of neoadjuvant chemotherapy consisting of paclitaxel and platinum-based agents, the patient's skin lesions markedly regressed, muscle strength improved, and dysphagia was significantly alleviated. She subsequently underwent radical breast surgery followed by adjuvant radiotherapy, and her condition has remained stable during follow-up.
CONCLUSION: A review of the literature indicates that age >40 years, dysphagia, rapid disease progression, and positivity for anti-transcription intermediary factor 1-gamma anti-TIF1-γ antibodies are important risk factors for CADM. Thorough malignancy screening should be performed in all newly diagnosed patients with dermatomyositis, particularly for common associated malignancies such as breast cancer, lung cancer, ovarian cancer, and nasopharyngeal carcinoma. Clinicians should maintain a high index of suspicion for occult malignancy in patients who respond poorly to conventional dermatomyositis therapy. Early identification and effective treatment of the underlying malignancy are critical for improving the prognosis of CADM.