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在淋巴结/结外组织活检中,结合流式细胞术的细胞遗传学对协助疑似淋巴瘤的早期诊断很敏感。

Cytogenetics with flow cytometry in lymph node/extranodal tissue biopsies is sensitive to assist the early diagnosis of suspected lymphomas.

作者信息

Wang Ying, Li Qinlu, Zhu Li, Mao Xia, Zhang Heng, Huang Lifang, Meng Fankai, Wei Jia

机构信息

Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

出版信息

Ann Hematol. 2017 Oct;96(10):1673-1680. doi: 10.1007/s00277-017-3066-y. Epub 2017 Jul 25.

Abstract

Few studies have examined the value of cytogenetic studies with flow cytometry (FC) in lymph node/extranodal tissue biopsies with suspected lymphoma. To evaluate this, G-banded karyotyping and/or fluorescence in situ hybridization (FISH) with FC immunophenotyping were performed on 185 lymph node or extranodal tissue biopsy specimens with suspected lymphoma. Complete cytogenetic analysis of lymph node/extranodal tissue was successful in 174 cases (94.1%) and 57.5% demonstrated chromosomal abnormalities. In 116 malignant lymphoma cases, 83.8% showed abnormalities. In 74 B cell lymphomas (B-NHL), abnormalities were more frequent in lymph node/extranodal tissues than in bone marrow by conventional cytogenetics (CC, 97.2 vs 26.1%), FISH (70.6 vs 17.6%), and FC (98.6 vs 28.4%). Three B-NHL diagnoses were confirmed by re-biopsy of lymph nodes due to the presence of abnormalities in the first biopsy, but no evidence of malignancy in pathological, FC, or IgH/TCR gene rearrangement analyses. In 29 T cell lymphomas (T-NHL), abnormalities were more frequent in lymph nodes than in bone marrow by CC (67.9 vs 21.4%) and FC (75.9 vs 27.6%) analyses. As expected, in 13 Hodgkin lymphoma cases, abnormalities were more frequent in lymph nodes than bone marrow by CC (41.7 vs 16.7%) and FC (30.8 vs 7.7%) analyses. In 56 reactive lymphoid hyperplasias (RLH), 7.1% had conventional clonal cytogenetic abnormalities. Two of these patients died of disease progression and two had their pathological diagnosis revised after the second review. These findings indicate that cytogenetic analysis combined with FC in lymph node/extranodal tissue biopsies can provide critical information in the auxiliary diagnosis of lymphoma.

摘要

很少有研究探讨在疑似淋巴瘤的淋巴结/结外组织活检中采用流式细胞术(FC)进行细胞遗传学研究的价值。为了对此进行评估,我们对185例疑似淋巴瘤的淋巴结或结外组织活检标本进行了G显带核型分析和/或结合FC免疫表型分析的荧光原位杂交(FISH)。174例(94.1%)成功完成了淋巴结/结外组织的完整细胞遗传学分析,其中57.5%显示出染色体异常。在116例恶性淋巴瘤病例中,83.8%表现出异常。在74例B细胞淋巴瘤(B-NHL)中,通过传统细胞遗传学(CC,97.2%对26.1%)、FISH(70.6%对17.6%)和FC(98.6%对28.4%)分析发现,染色体异常在淋巴结/结外组织中比在骨髓中更常见。由于首次活检存在异常,但病理、FC或IgH/TCR基因重排分析未发现恶性证据,3例B-NHL诊断通过再次活检淋巴结得以确诊。在29例T细胞淋巴瘤(T-NHL)中,通过CC(67.9%对21.4%)和FC(75.9%对27.6%)分析发现,染色体异常在淋巴结中比在骨髓中更常见。正如预期的那样,在13例霍奇金淋巴瘤病例中,通过CC(41.7%对16.7%)和FC(30.8%对7.7%)分析发现,染色体异常在淋巴结中比在骨髓中更常见。在56例反应性淋巴组织增生(RLH)中,7.1%存在传统的克隆性细胞遗传学异常。其中2例患者死于疾病进展,2例在二次复查后病理诊断得以修正。这些发现表明,在淋巴结/结外组织活检中,细胞遗传学分析与FC相结合可为淋巴瘤的辅助诊断提供关键信息。

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