Abstract
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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