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对疑似骨髓增生异常综合征的连续评估:流式细胞术发现与细胞形态学、细胞遗传学和分子遗传学相符的意义。

Serial assessment of suspected myelodysplastic syndromes: significance of flow cytometric findings validated by cytomorphology, cytogenetics, and molecular genetics.

机构信息

MLL Munich Leukemia Laboratory, Munich, Germany.

出版信息

Haematologica. 2013 Feb;98(2):201-7. doi: 10.3324/haematol.2012.066787. Epub 2012 Aug 28.

Abstract

The significance of flow cytometry indicating myelodysplasia without proof of myelodysplasia by cytomorphology remains to be clarified. We evaluated follow-up analyses in 142 patients analyzed in parallel by flow cytometry, cytomorphology and cytogenetics for suspected myelodysplasia without proof of myelodysplasia by cytomorphology. At initial assessment, flow cytometry indicated myelodysplasia in 64 of 142 (45.1%) patients. In 9 of 142 (6.3%) patients, cytogenetics revealed aberrant karyotypes at first evaluation that were found in 5 of 64 (7.8%) patients rated with myelodysplasia by flow cytometry. The remaining 133 patients without proof of myelodysplasia by cytomorphology and with normal karyotype underwent follow-up analyses that confirmed myelodysplasia by cytomorphology, cytogenetics or molecular genetics in 47 (35.3%) after a median interval of nine months (range 1-53 months). As far as initial flow cytometry results are concerned, this applied to 30 of 59 (50.1%) with myelodysplasia, 10 of 42 (23.8%) with "possible myelodysplasia" (minor antigen aberrancies only) and 7 of 32 (21.9%) without myelodysplasia (P=0.004). Notably, in these latter 7 patients, flow cytometry results changed at follow up to "possible myelodysplasia" (n=4) and "myelodysplasia" (n=2). These data argue in favor of including flow cytometry along with cytomorphology, cytogenetics and molecular genetics to diagnose myelodysplasia, and suggest a closer monitoring of patients with myelodysplasia-typical aberrant antigen expression found by flow cytometry.

摘要

流式细胞术提示骨髓增生异常但形态学不明确的意义仍需阐明。我们评估了 142 例同时接受流式细胞术、形态学和细胞遗传学检查,怀疑骨髓增生异常但形态学不明确的患者的随访分析。在初始评估中,流式细胞术在 142 例患者中的 64 例(45.1%)中提示骨髓增生异常。在 142 例患者中的 9 例(6.3%)中,细胞遗传学在首次评估时显示异常核型,其中 5 例(7.8%)在流式细胞术评定为骨髓增生异常的 64 例患者中发现。其余 133 例形态学不明确且核型正常的患者接受了随访分析,中位间隔 9 个月(1-53 个月)后,47 例(35.3%)通过形态学、细胞遗传学或分子遗传学证实为骨髓增生异常。就初始流式细胞术结果而言,这适用于 59 例骨髓增生异常患者中的 30 例(50.1%)、42 例“可能的骨髓增生异常”患者中的 10 例(23.8%)和 32 例无骨髓增生异常患者中的 7 例(21.9%)(P=0.004)。值得注意的是,在这后 7 例患者中,流式细胞术结果在随访中变为“可能的骨髓增生异常”(n=4)和“骨髓增生异常”(n=2)。这些数据支持将流式细胞术与形态学、细胞遗传学和分子遗传学结合起来诊断骨髓增生异常,并建议对流式细胞术发现的具有骨髓增生异常典型异常抗原表达的患者进行更密切的监测。

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