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.
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.
Sun
Yang
Y
Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH 44195, United States.
Cook
James R
JR
D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003582:Cytogenetics / Q000379:methods*; D051766:Early Growth Response Protein 1; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008677:Metaphase / Q000235:genetics; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D016184:Receptors, Colony-Stimulating Factor / Q000235:genetics*
C497325:EGR1 protein, human; D051766:Early Growth Response Protein 1; D016184:Receptors, Colony-Stimulating Factor