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与CBFβ/MYH11融合及inv(16)(p13q22)相关的小肠髓系肉瘤:一例报告

Myeloid sarcoma of the small bowel associated with a CBFbeta/MYH11 fusion and inv(16)(p13q22): a case report.

作者信息

McKenna M, Arnold C, Catherwood M A, Humphreys M W, Cuthbert R J G, Bueso-Ramos C, McManus D T

机构信息

Histopathology, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast BT9 7AD, UK.

出版信息

J Clin Pathol. 2009 Aug;62(8):757-9. doi: 10.1136/jcp.2008.063669.

DOI:10.1136/jcp.2008.063669
PMID:19638550
Abstract

This report describes a case of aleukaemic myeloid sarcoma of the small intestine in a 50-year-old woman presenting with small bowel obstruction. Fluorescence in situ hybridisation analysis of interphase nuclei revealed a split CBFbeta signal, consistent with an underlying inversion of chromosome 16, inv(16)(p13q22). The resultant type A CBFbeta/MYH11 transcript was detected by reverse transcriptase PCR. Immunohistochemistry with the AH107 antibody to the CBFbeta-SMMHC chimeric protein showed strong nuclear staining of the tumour cell nuclei. This represents the first use of this antibody in the diagnosis of this subtype of myeloid sarcoma in the small intestine.

摘要

本报告描述了一名50岁女性小肠无白血病性髓系肉瘤病例,该患者表现为小肠梗阻。间期核的荧光原位杂交分析显示CBFβ信号分裂,与16号染色体潜在的倒位inv(16)(p13q22)一致。通过逆转录酶PCR检测到了产生的A型CBFβ/MYH11转录本。使用针对CBFβ-SMMHC嵌合蛋白的AH107抗体进行免疫组织化学检测,显示肿瘤细胞核有强烈的核染色。这是该抗体首次用于诊断小肠髓系肉瘤的这一亚型。

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