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浆细胞发育异常中的间期荧光原位杂交:通过浆细胞富集提高异常检测率

Interphase FISH in plasma cell dyscrasia: increase in abnormality detection with plasma cell enrichment.

作者信息

Pozdnyakova Olga, Crowley-Larsen Patricia, Zota Victor, Wang Sa A, Miron Patricia M

机构信息

Department of Pathology, UMass Memorial Medical Center, Worcester, MA 01605, USA.

出版信息

Cancer Genet Cytogenet. 2009 Mar;189(2):112-7. doi: 10.1016/j.cancergencyto.2008.11.007.

DOI:10.1016/j.cancergencyto.2008.11.007
PMID:19215792
Abstract

Historically, cytogenetic studies of plasma cell neoplasms have been hampered by the fact that terminally differentiated plasma cells do not proliferate well in vitro. Although the use of interphase FISH (iFISH) has greatly improved the ability to detect cytogenetic abnormalities, cases with low numbers of neoplastic cells often do not demonstrate abnormalities. Using a four-assay, nine-probe iFISH panel, we compared the abnormality detection rate for overnight unstimulated bone marrow cultures (ONC) to that for plasma-cell enriched fractions obtained with use of CD138-coated immunomagnetic beads (PCE). In the ONC, an abnormality was detected in 11 of 29 cases (38%); in the PCE, an abnormality was detected in 30 of 33 cases (91%). For 28 cases in which iFISH results from ONC were compared directly with PCE samples, the overall abnormality rate was 36% for ONC and 89% for PCE (P < 0.01). The conventional GTG-banded chromosome analysis revealed only 2 of 34 cases with an abnormal karyotype (6%); both cases were hyperdiploid. We conclude that the plasma cell enrichment step for iFISH should be incorporated into the routine cytogenetic work-up for all patients with plasma cell neoplasms.

摘要

从历史上看,浆细胞肿瘤的细胞遗传学研究一直受到终末分化浆细胞在体外增殖不佳这一事实的阻碍。尽管使用间期荧光原位杂交(iFISH)极大地提高了检测细胞遗传学异常的能力,但肿瘤细胞数量较少的病例往往无法显示出异常。我们使用一个包含四项检测、九个探针的iFISH检测板,比较了过夜未刺激骨髓培养物(ONC)与使用CD138包被的免疫磁珠获得的浆细胞富集组分(PCE)的异常检测率。在ONC中,29例中有11例(38%)检测到异常;在PCE中,33例中有30例(91%)检测到异常。对于28例将ONC的iFISH结果与PCE样本直接比较的病例,ONC的总体异常率为36%,PCE为89%(P < 0.01)。传统的GTG带型染色体分析显示在34例中只有2例(6%)核型异常;这两例均为超二倍体。我们得出结论,iFISH的浆细胞富集步骤应纳入所有浆细胞肿瘤患者的常规细胞遗传学检查中。

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Plasma cell enrichment enhances detection of high-risk cytogenomic abnormalities by fluorescence in situ hybridization and improves risk stratification of patients with plasma cell neoplasms.浆细胞富集通过荧光原位杂交增强高危细胞遗传学异常的检测,并改善浆细胞肿瘤患者的风险分层。
Arch Pathol Lab Med. 2013 May;137(5):625-31. doi: 10.5858/arpa.2012-0209-OA.