评估骨髓形态学和辅助研究在接受骨髓增生异常综合征监测的儿科患者中的效用。

Evaluation of the Utility of Bone Marrow Morphology and Ancillary Studies in Pediatric Patients Under Surveillance for Myelodysplastic Syndrome.

机构信息

Department of Laboratories, Seattle, WA.

Department of Laboratory Medicine, University of Washington, Seattle.

出版信息

Am J Clin Pathol. 2018 Apr 25;149(6):499-513. doi: 10.1093/ajcp/aqy007.

DOI:10.1093/ajcp/aqy007

PMID:29659673

Abstract

OBJECTIVES

To evaluate the utility of flow cytometry, karyotype, and a fluorescence in situ hybridization (FISH) panel in screening children for myelodysplastic syndrome (MDS).

METHODS

Bone marrow morphology, flow cytometry, karyotype, and FISH reports from 595 bone marrow specimens (246 patients) were analyzed.

RESULTS

By morphology, 8.7% of cases demonstrated at least unilineage dysplasia and/or increased blasts. Flow cytometry identified definitive abnormalities in 2.8% of cases, all of which had abnormal morphology. Of the 42 cases (7.2%) with acquired karyotypic abnormalities, 26 had no morphologic dysplasia. With a 98.2% concordance between karyotype and MDS FISH, FISH only identified two additional cases, both with low-level (<4%) abnormalities. Peripheral blood count evaluation only identified the absence of thrombocytopenia to correlate with an absence of abnormal ancillary tests.

CONCLUSIONS

The combination of morphologic evaluation and karyotype with judicious use of flow cytometry and MDS FISH is sufficient to detect abnormalities for these indications.

摘要

目的

评估流式细胞术、核型分析和荧光原位杂交（FISH）在儿童骨髓增生异常综合征（MDS）筛查中的应用价值。

方法

分析了 595 份骨髓标本（246 例患者）的骨髓形态学、流式细胞术、核型分析和 FISH 报告。

结果

形态学上，8.7%的病例至少表现出一系发育不良和/或增生的原始细胞。流式细胞术在 2.8%的病例中发现了明确的异常，这些病例均伴有形态学异常。在 42 例（7.2%）获得性核型异常的病例中，26 例无形态学发育不良。核型与 MDS FISH 的一致性为 98.2%，FISH 仅额外发现了 2 例病例，均存在低水平（<4%）异常。外周血计数评估仅发现血小板减少症的缺失与异常辅助检查的缺失相关。