为了测定del(5q)的FISH在MDS/AML的临床应用,我们首先在包含有del(5q)的51个骨髓肿瘤的细胞分裂中期比较5q31 (EGR1) 和 5q33 (CSF1R)的FISH.接着EGR1 FISH 在269个有或者可能含有MDS/AML 的细胞分裂中期样本中进行对比.研究表明大部份的样本del(5q)只能在细胞分裂中期检测,FISH在生长最适度下是很有用的.在多种骨髓肿瘤中(包括5q综合症)用EGR1 FISH 检测del(5q)同时研究CSF1R 对诊断很有用.

Fluorescence in situ hybridization for del(5q) in myelodysplasia/acute myeloid leukemia: Comparison of EGR1 vs. CSF1R probes and diagnostic yield over metaphase cytogenetics alone.(Sun Y, Cook JR.)
    To determine the clinical utility of FISH for del(5q) in MDS/AML, we first compared FISH for 5q31 (EGR1) and 5q33 (CSF1R) in 51 myeloid neoplasms containing del(5q) by metaphase cytogenetics. Next, EGR1 FISH was compared to metaphase cytogenetics alone in 269 cases of known or suspected MDS/AML. These studies show that while metaphase cytogenetics alone can detect del(5q) in most cases, FISH is particularly useful in cases with suboptimal growth. EGR1 FISH detects del(5q) in a broad variety of myeloid neoplasms, including at least most cases of 5q- syndrome, while studies for CSF1R add little to the diagnostic yield.

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