Sondhi Manush, Lear Megan, Dar Saleha, Tariq Madiha
Department of Internal Medicine, Overton Brooks VA Medical Center, Shreveport, LA, USA.
Department of Internal Medicine, Louisiana State University, 1501 Kings Highway Shreveport, Shreveport, LA, 71103, USA.
BMC Rheumatol. 2025 Jan 26;9(1):9. doi: 10.1186/s41927-025-00460-8.
Dermatomyositis is a chronic inflammatory condition affecting muscles and skin, often associated with an increased risk of cancer. Specific autoantibodies, including anti-TIF1 (Transcription Intermediary Factor 1), have been linked to this risk. We present a case of dermatomyositis in a male patient positive for anti-TIF1 antibodies, subsequently diagnosed with squamous cell carcinoma of the tonsil, a novel association not previously documented. Early recognition of such associations is crucial for timely intervention and improved outcomes in these patients.
A 53-year-old Caucasian male with hyperlipidemia presented with chronic dry, scaly skin and pruritus, diagnosed with eczematous dermatitis. Despite treatment, symptoms persisted. After two years, he reported increased redness of the rash and new eruptions on his hands and fingers. During a rheumatology visit, he reported weight loss, fatigue, muscle weakness, and trismus. Further evaluation indicated signs of dermatomyositis, and laboratory tests revealed anti-TIF1 antibodies, prompting further investigation. The patient underwent age-appropriate cancer screening, and due to a known association with malignancy, a positron emission scan was ordered, detecting increased activity in the right tonsil. Subsequent magnetic resonance imaging showed a suspicious mass in the tonsillar area. A biopsy confirmed invasive squamous cell carcinoma positive for P16+. Initial treatment included radiotherapy, with a post-treatment PET scan showing no evidence of disease. However, four months later, the cancer recurred, leading to significant symptoms and complications. Despite supportive measures, the patient succumbed to high-volume oral cavity bleeding during hospitalization.
TIF1 dermatomyositis is a unique subset of dermatomyositis with a strong association with malignancy, particularly squamous cell carcinoma (SCC). Mechanisms connecting TIF1 dermatomyositis and cancer involve gene expression dysregulation and chronic inflammation. Anti-TIF1 antibodies are key biomarkers, with IgG2 isotype levels highly predictive of cancer risk. Common malignancies include ovarian, breast, and lung cancers, often detected within three years of dermatomyositis onset. Distinctive features include severe skin lesions, dysphagia, and minimal interstitial lung disease. Management focuses on early cancer detection and treatment, with options for refractory disease, including IVIg, rituximab, and emerging therapies like JAK inhibitors. Our case highlights a new association between TIF1α antibodies and tonsil squamous cell carcinoma. Despite successful radiotherapy, cancer recurred. TIF1 antibody detection should prompt rigorous cancer screening, emphasizing multidisciplinary management.
皮肌炎是一种影响肌肉和皮肤的慢性炎症性疾病，常与癌症风险增加相关。包括抗TIF1（转录中介因子1）在内的特定自身抗体与这种风险有关。我们报告一例抗TIF1抗体阳性的男性皮肌炎患者，随后被诊断为扁桃体鳞状细胞癌，这是一种此前未被记录的新关联。早期识别此类关联对于这些患者的及时干预和改善预后至关重要。
一名患有高脂血症的53岁白种男性，出现慢性干燥、鳞屑性皮肤和瘙痒，被诊断为湿疹性皮炎。尽管进行了治疗，症状仍持续存在。两年后，他报告皮疹发红加重，手部和手指出现新的皮疹。在一次风湿病门诊就诊时，他报告体重减轻、疲劳、肌肉无力和牙关紧闭。进一步评估显示皮肌炎迹象，实验室检查发现抗TIF1抗体，促使进一步检查。患者接受了适龄癌症筛查，由于已知与恶性肿瘤有关，因此进行了正电子发射扫描，检测到右扁桃体活动增加。随后的磁共振成像显示扁桃体区域有可疑肿块。活检证实为P16 +阳性的浸润性鳞状细胞癌。初始治疗包括放疗，治疗后PET扫描显示无疾病证据。然而，四个月后，癌症复发，导致严重症状和并发症。尽管采取了支持措施，患者在住院期间因大量口腔出血死亡。
TIF1皮肌炎是皮肌炎的一个独特亚组，与恶性肿瘤，特别是鳞状细胞癌（SCC）密切相关。连接TIF1皮肌炎和癌症的机制涉及基因表达失调和慢性炎症。抗TIF1抗体是关键生物标志物，IgG2同种型水平高度预测癌症风险。常见的恶性肿瘤包括卵巢癌、乳腺癌和肺癌，通常在皮肌炎发病后三年内被检测到。其特征包括严重的皮肤病变、吞咽困难和轻微的间质性肺病。管理重点在于早期癌症检测和治疗，对于难治性疾病有多种选择，包括静脉注射免疫球蛋白、利妥昔单抗以及如JAK抑制剂等新兴疗法。我们的病例突出了TIF1α抗体与扁桃体鳞状细胞癌之间的新关联。尽管放疗成功，但癌症仍复发。检测到TIF1抗体应促使进行严格的癌症筛查，强调多学科管理。
