Carnevale Aldo, Vietri Lucia, Cossu Alberto, Gabriele Deborah, Quarantotto Francesco, Culcasi Martina, Longo Filomena
Radiology Unit, Department of Translational Medicine, University of Ferrara, Via L. Ariosto 35, 44121, Ferrara, Italy.
Respiratory Medicine Unit, Department of Cardio-Thoracic-Vascular Pathologies, Arcispedale Sant'Anna, Via A. Moro 8, 44124, Ferrara, Italy.
J Med Case Rep. 2025 Mar 25;19(1):137. doi: 10.1186/s13256-025-05174-6.
β-Thalassemia major is a complex, multisystemic condition. Effective transfusion programs, optimal iron chelation therapy, and progresses in magnetic resonance imaging have significantly improved patient survival. Despite these advancements, the fundamental pathophysiology remains unaltered, leading to an increase in comorbidities and cancer diagnoses with advancing age. We report a unique case of coincidentally discovered thymoma and lymphangioleiomyomatosis in a patient with β-thalassemia major.
A 56-year-old Italian female patient with β-thalassemia major underwent magnetic resonance imaging to quantify myocardial, hepatic, and pancreatic iron deposition. Her medical history included transfusion-dependent β-thalassemia, splenectomy, and cholecystectomy. At the time of magnetic resonance imaging, she had no significant endocrine, cardiac, or hepatic complications and was on deferasirox, vitamin D, and luspatercept. Magnetic resonance imaging revealed a lobulated mass in the prevascular mediastinum, which showed mild radiotracer uptake on positron emission tomography. Chest computed tomography revealed multiple thin-walled cysts in the lungs, indicating lymphangioleiomyomatosis. Following multidisciplinary evaluation, the patient underwent thoracoscopic thymectomy and lung wedge resection. Histopathology confirmed type B2 thymoma and pulmonary lymphangioleiomyomatosis. Post-surgery, the patient was recommended for adjuvant radiation therapy and sirolimus treatment.
This is the first reported case of the coincidental discovery of thymoma and lymphangioleiomyomatosis in a patient with β-thalassemia major. This case emphasizes the importance of thorough radiologic evaluations in patients with β-thalassemia to detect potential neoplastic conditions early. Enhanced awareness among clinicians and radiologists is crucial for the timely diagnosis and management of these patients.
重型β地中海贫血是一种复杂的多系统疾病。有效的输血方案、优化的铁螯合疗法以及磁共振成像技术的进步显著提高了患者的生存率。尽管有这些进展，但基本的病理生理学仍未改变，导致随着年龄增长合并症和癌症诊断增加。我们报告了一例在重型β地中海贫血患者中偶然发现胸腺瘤和淋巴管平滑肌瘤病的独特病例。
一名56岁的意大利女性重型β地中海贫血患者接受了磁共振成像，以量化心肌、肝脏和胰腺的铁沉积。她的病史包括输血依赖型β地中海贫血、脾切除术和胆囊切除术。在进行磁共振成像时，她没有明显的内分泌、心脏或肝脏并发症，正在服用地拉罗司、维生素D和罗特西普。磁共振成像显示血管前纵隔有一个分叶状肿块，在正电子发射断层扫描上显示有轻度放射性示踪剂摄取。胸部计算机断层扫描显示肺部有多个薄壁囊肿，提示淋巴管平滑肌瘤病。经过多学科评估，患者接受了胸腔镜胸腺切除术和肺楔形切除术。组织病理学证实为B2型胸腺瘤和肺淋巴管平滑肌瘤病。术后，建议患者接受辅助放疗和西罗莫司治疗。
这是首例报道的在重型β地中海贫血患者中偶然发现胸腺瘤和淋巴管平滑肌瘤病的病例。该病例强调了对重型β地中海贫血患者进行全面放射学评估以早期发现潜在肿瘤性疾病的重要性。临床医生和放射科医生提高认识对于这些患者的及时诊断和管理至关重要。
