原发性纵隔生殖细胞肿瘤的放射学和生化诊断:病例报告
Radiological and Biochemical Diagnosis of a Primary Mediastinal Germ Cell Tumour: A Case Report.
Radiological and Biochemical Diagnosis of a Primary Mediastinal Germ Cell Tumour: A Case Report.
前纵隔肿块由于表现非特异且临床特征相互重叠,给诊断带来挑战,可能延长检查时间并延误诊断。本病例描述了一名既往体健的年轻男性,其症状最初被怀疑由呼吸道感染引起。在因呼吸道症状未见好转而从基层医疗转诊至急诊科后,胸部X线片显示左侧胸腔内存在大片异常。随后的胸部增强CT显示一个巨大的前纵隔肿块,对左肺造成显著压迫,并伴有可疑转移性病变的肺结节。血清肿瘤标志物显示甲胎蛋白(AFP)显著升高,乳酸脱氢酶(LDH)和β-人绒毛膜促性腺激素(β-hCG)中度升高。腹部和盆腔CT未见进一步病变,睾丸超声未见局灶性睾丸异常,支持该肿块的原发部位为纵隔。影像学与生化检查结果相结合,可诊断为原发性纵隔非精原细胞性生殖细胞肿瘤,从而能够在最终组织病理学确认之前紧急启动以顺铂和依托泊苷化疗为主的肿瘤治疗。通过超声引导下活检获得的组织样本证实原发病变为多形性卵黄囊瘤。随后患者被转诊至三级专科中心,在那里接受了以治愈为目的的卡铂、博来霉素、长春新碱、顺铂和依托泊苷(CBOP-BEP)化疗。初始治疗显示出良好的生化反应,肿瘤标志物即AFP下降。本病例凸显了将多模态影像与血清肿瘤标志物相结合在评估复杂性前纵隔肿块中日益核心的作用,使得在侵袭性疾病中能够迅速做出肿瘤学决策。
Anterior mediastinal masses pose a diagnostic challenge due to the non-specific presentation and overlapping clinical features, which may prolong investigations and delay diagnosis. This case describes a previously fit and well young man who presented with symptoms initially suspected to be caused by a respiratory infection. Following referral from primary care to the emergency department for non-improving respiratory symptoms, a chest X-ray demonstrated a large abnormality in the left hemithorax. A subsequent contrast-enhanced CT thorax revealed a large anterior mediastinal mass causing significant compression of the left lung, with associated pulmonary nodules suspicious for metastatic disease. Serum tumour markers demonstrated a markedly elevated alpha-fetoprotein (AFP), with moderate elevation of lactate dehydrogenase (LDH) and beta-human chorionic gonadotrophin (β-hCG). A CT abdomen and pelvis showed no further disease, and a testicular ultrasound demonstrated no focal testicular abnormality, supporting a primary mediastinal origin of the mass. The combined radiological and biochemical findings were diagnostic of a primary mediastinal non-seminomatous germ cell tumour, allowing urgent oncological treatment with cisplatin and etoposide chemotherapy to be initiated prior to final histopathological confirmation. A tissue sample obtained via ultrasound-guided biopsy confirmed the primary lesion to be a pleomorphic, yolk-sac tumour. The patient was then subsequently transferred to a tertiary specialist centre where he was treated with curative-intent carboplatin, bleomycin, vincristine, cisplatin and etoposide (CBOP-BEP) chemotherapy. A promising biochemical response to initial management was demonstrated with a decline in tumour markers, namely, AFP. This case highlights the increasingly central role of integrating multimodal imaging with serum tumour markers in the assessment of complex anterior mediastinal masses, enabling prompt oncological decision-making in aggressive disease.
Hozaifa Sahi, Divneet Kaur Chadha, Ivo Hennig. Radiological and Biochemical Diagnosis of a Primary Mediastinal Germ Cell Tumour: A Case Report.. Cureus. 2026; doi:10.7759/cureus.112137.
Hozaifa Sahi, Divneet Kaur Chadha, Ivo Hennig (2026). Radiological and Biochemical Diagnosis of a Primary Mediastinal Germ Cell Tumour: A Case Report.. Cureus. https://doi.org/10.7759/cureus.112137
Hozaifa Sahi, Divneet Kaur Chadha, Ivo Hennig. Radiological and Biochemical Diagnosis of a Primary Mediastinal Germ Cell Tumour: A Case Report.[J]. Cureus, 2026 doi:10.7759/cureus.112137.
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