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Vimentin 阳性和甲胎蛋白升高的睾丸中线癌核蛋白:病例报告及文献复习。

Vimentin-positive and Alpha-fetoprotein-elevated Nuclear Protein of the Testis Midline Carcinoma: A Case Report and Review of the Literature.

机构信息

Department of Clinical Oncology, Yamagata University Faculty of Medicine, Japan.

出版信息

Intern Med. 2021 Nov 15;60(22):3645-3649. doi: 10.2169/internalmedicine.7019-21. Epub 2021 May 29.

Abstract

Nuclear protein of the testis (NUT) midline carcinoma (NMC) is a rare malignant tumor expressing NUT with BRD4/3 rearrangements and is sometimes misdiagnosed as germinoma, especially in alpha-fetoprotein (AFP)-elevated cases. A 28-year-old man had a mediastinal tumor with multiple bone metastases and elevated AFP levels. Imaging/laboratory findings led to a pathological diagnosis of extragonadal germinoma. After unsuccessful treatment with etoposide-cisplatin, he was re-diagnosed with sarcoma due to vimentin-positive findings. He was treated with adriamycin-ifosfamide, which resulted in disease-control. A posthumous examination clarified the NUT rearrangement. Even in cases with characteristic findings, such as elevated AFP levels and vimentin positivity, NMC should be considered as a differential diagnosis. We note, however, that adriamycin-ifosfamide has some efficacy in such cases.

摘要

睾丸核蛋白(NUT)中线癌(NMC)是一种罕见的恶性肿瘤,表达 NUT 并伴有 BRD4/3 重排,有时被误诊为生殖细胞瘤,尤其是在甲胎蛋白(AFP)升高的情况下。一名 28 岁男性患有纵隔肿瘤,伴有多处骨转移和 AFP 水平升高。影像学/实验室检查结果导致病理诊断为性腺外生殖细胞瘤。在依托泊苷-顺铂治疗失败后,由于发现波形蛋白阳性,他被重新诊断为肉瘤。他接受了多柔比星-异环磷酰胺治疗,结果疾病得到控制。尸检结果明确了 NUT 重排。即使在具有特征性发现的情况下,如 AFP 水平升高和波形蛋白阳性,也应考虑 NMC 作为鉴别诊断。然而,我们注意到,多柔比星-异环磷酰胺在这种情况下具有一定的疗效。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6216/8666212/66a5528d43e4/1349-7235-60-3645-g001.jpg

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