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β-HCG 产生和 KRAS 突变的纵隔癌肉瘤 1 例报告

A Case of Mediastinal Carcinosarcoma With Beta-HCG Production and KRAS Mutation.

机构信息

Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

Department of Radiology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

出版信息

Int J Surg Pathol. 2023 Dec;31(8):1598-1604. doi: 10.1177/10668969231166297. Epub 2023 Apr 3.

Abstract

Carcinosarcomas of mediastinum are rare and only few well-documented cases are available in the literature. We report a detailed description of mediastinal carcinosarcoma with unique clinical manifestations and immunohistochemical and molecular profiles. A 44-year-old female with an enlarging anterior mediastinal mass was found to have a positive pregnancy test. Thoracoscopic biopsy revealed that the mass represented a carcinosarcoma with adenocarcinoma and chondrosarcoma components. The tumor focally expressed beta-HCG by immunohistochemistry and had missense mutation by next generation sequencing. The case documents a rare presentation of carcinosarcoma within the mediastinum with uncommon paraneoplastic syndrome and genetic profile. Awareness of these unusual clinical and pathological manifestations of the tumor will help in reaching correct diagnosis and proper management of such patients.

摘要

纵隔癌肉瘤罕见,文献中仅有少数几例有详细记录。我们报告了一例具有独特临床表现、免疫组织化学和分子特征的纵隔癌肉瘤的详细描述。一名 44 岁女性因前纵隔肿块增大,妊娠试验阳性。胸腔镜活检显示肿块为癌肉瘤,由腺癌和软骨肉瘤成分组成。肿瘤的免疫组织化学表现为β-HCG 阳性,下一代测序显示存在错义突变。该病例记录了一例罕见的纵隔癌肉瘤表现,伴有不常见的副肿瘤综合征和遗传特征。了解肿瘤这些不常见的临床和病理表现将有助于正确诊断和对这类患者进行适当的治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9ec3/10616989/90b52a3106b5/10.1177_10668969231166297-fig1.jpg

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