2021
DOI: 10.3390/cancers13215354
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CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management

Abstract: Fluorescence in situ hybridization (FISH) is a confirmatory test to establish a diagnosis of inv(16)/t(16;16) AML. However, incidental findings and their clinical diagnostic implication have not been systemically studied. We studied 1629 CBFB FISH cases performed in our institution, 262 (16.1%), 1234 (75.7%), and 133 (8.2%) were reported as positive, normal, and abnormal, respectively. The last included CBFB copy number changes (n = 120) and atypical findings such as 3′CBFB deletion (n = 11), 5′CBFB deletion (… Show more

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Cited by 4 publications
(9 citation statements)
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“…We retrospectively searched our database within a timeframe of 21 years (from 1 June 2000 through 31 May 2021) [ 24 ] and found only 10 AML cases showed clonal t(2;16) aberrations, but involving various band levels of both chromosome 2 and chromosome 16. Among the seven cases tested with CBFB BAP FISH, only the case included in this study showed a positive CBFB rearrangement.…”
Section: Discussionmentioning
confidence: 99%
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“…We retrospectively searched our database within a timeframe of 21 years (from 1 June 2000 through 31 May 2021) [ 24 ] and found only 10 AML cases showed clonal t(2;16) aberrations, but involving various band levels of both chromosome 2 and chromosome 16. Among the seven cases tested with CBFB BAP FISH, only the case included in this study showed a positive CBFB rearrangement.…”
Section: Discussionmentioning
confidence: 99%
“…We searched the database of the Clinical Cytogenetics Laboratory in the Department of Hematopathology, the University of Texas MD Anderson Cancer Center, for cases assessed by CBFB break-apart (BAP) FISH testing performed from 1 June 2000 through 31 May 2021. From a cohort of 271 AML cases with a confirmed CBFB rearrangement by FISH and/or RT-PCR, 3 cases were identified as negative for CBFB::MYH11 fusion [ 24 ]. The CBFB rearrangement in these cases was derived from non-classic t(1;16), t(2;16), and t(16;19), respectively.…”
Section: Methodsmentioning
confidence: 99%
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