PDF(Pubmed)
Abstract：
We report a young pregnant woman with large midline thoracic mass and markedly elevated serum alpha-fetoprotein (AFP) levels. Initially suspected as a germ cell tumour (GCT) due to age, site, and high AFP levels, a biopsy unveiled a high-grade malignant tumour characterised by undifferentiated monotonous cells. Although tumour cells exhibited positive AFP, the overall immunoprofile did not provide additional evidence to support GCT. Further work-up showed positive for NUT (nuclear protein in testis) immunostaining and the presence of BRD4-NUT1 fusion, confirming the diagnosis of NUT carcinoma. On radiology, there were extensive metastases to lungs, liver, vertebrae, and placenta. Despite aggressive chemotherapy, radiotherapy and immunotherapy, she did not respond to the therapies. Fortunately, her child was not affected by the carcinoma. This is the first case highlighting that thoracic lung primary NUT carcinoma can spread to the placenta and manifest with elevated serum AFP levels, potentially leading to misdiagnosis as GCT both clinically and pathologically.
摘要：
我们报告了一名年轻的孕妇，其中线胸部肿块大，血清甲胎蛋白（AFP）水平显着升高。由于年龄原因，最初被怀疑为生殖细胞肿瘤（GCT），site,和高AFP水平，活检揭示了一种以未分化的单调细胞为特征的高级恶性肿瘤。尽管肿瘤细胞显示AFP阳性，总体免疫谱未提供其他证据支持GCT.进一步检查显示NUT（睾丸中的核蛋白）免疫染色呈阳性，并且存在BRD4-NUT1融合物，确认NUT癌的诊断。在放射学上，有广泛的肺部转移，肝脏,椎骨,和胎盘。尽管进行了积极的化疗，放疗和免疫疗法，她对治疗没有反应。幸运的是,她的孩子没有受到癌症的影响。这是第一例，突出表明胸肺原发性NUT癌可以扩散到胎盘，并表现为血清AFP水平升高，可能导致临床和病理误诊为GCT。
