Fluorescence In Situ Hybridization Identifies Cryptic t(16;16)(p13;q22) Masked By del(16)(q22) in a Case of AML-M4 Eo Shakil H. Merchant, Skip Haines,

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Fluorescence In Situ Hybridization Identifies Cryptic t(16;16)(p13;q22) Masked By del(16)(q22) in a Case of AML-M4 Eo Shakil H. Merchant, Skip Haines, Bryan Hall, John Hozier, David S. Viswanatha The Journal of Molecular Diagnostics Volume 6, Issue 3, Pages 271-274 (August 2004) DOI: 10.1016/S1525-1578(10)60521-1 Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 A: Acute myelomonocytic leukemia with dyplastic eosinophils. Note several myeloid blasts admixed with abnormal eosinophils with large basophilic granules. Inset: Partial karyotype showing del(16)(q22) by G-banding (arrow). B: RT-PCR for detection of CBFβ-MYH11 fusion transcripts. Chemiluminescent detection of PCR products hybridized with CBFβ internal oligoprobe. Lanes are designated as follows: L, 100 bp size ladder; Pt, patient sample; (−), negative (non-specific RNA) control; W, water blank; (+), positive control for CBFβ-MYH11 (ME-1 cell line). Arrow demonstrates a 415-bp amplicon type A CBFβ-MYH11 product. C: Dual-color, break-apart FISH: large image of metaphase nucleus showing a fused red/green (yellow) signal on the q arm of one chromosome 16 and a green signal on the other arm, while the chromosome 16 homologue shows only the red signal on one arm, consistent with t(16;16)(p13;q22) [indicated by arrows]. Inset: Interphase nucleus showing a yellow fusion signal (normal configuration), as well as one green and one red signal (abnormal signal). See text for further details. The Journal of Molecular Diagnostics 2004 6, 271-274DOI: (10.1016/S1525-1578(10)60521-1) Copyright © 2004 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions