Deletion of 3′CBFβ in an inv(16)(p13.lq22) ascertained by fluorescence in situ hybridization and reverse-transcriptase polymerase chain reaction

Hung, Dorothy; Heaps, Luke St; Benson, Woodrow; Mirochnik, Oksana; Sharma, Pratibha; Smith, Arabella

doi:10.1016/j.cancergencyto.2006.08.006

Cited by 9 publications

(4 citation statements)

References 9 publications

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“…Atypical findings could be encountered during CBFB BAP FISH testing, such as insertion resulting in a false-negative FISH result [10,11], 3 CBFB deletion [12][13][14][15][16][17], and rare CBFB-MYH11 isoforms [18,19], and have been reported as case reports. Atypical findings, including atypical signal patterns, could pose diagnostic challenges.…”

Section: Introductionmentioning

confidence: 99%

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

Yang

Toruner

Wang

et al. 2021

Cancers

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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 (n = 1), and 5′CBFB gain (n = 1). Correlating with CBFB-MYH11 RT-PCR results, totally 271 CBFB rearrangement cases were identified, including five with discrepancies between FISH and RT-PCR due to new partner genes (n = 3), insertion (n = 1), or rare CBFB-MYH11 variant (n = 1) and eight with 3′CBFB deletion. All cases with atypical findings and/or discrepancies presented clinical diagnostic challenges. Correlating FISH signal patterns and karyotypes, additional chromosome 16 aberrations (AC16As) show impacts on the re-definition of a complex karyotype and prognostic prediction. The CBFB rearrangement but not all AC16As will be detected by NGS-based methods. Therefore, FISH testing is currently still needed to provide a quick and straightforward confirmatory inv(16)/t(16;16) AML diagnosis and additional information related to clinical management.

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Section: Introductionmentioning

confidence: 99%

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

Yang

Toruner

Wang

et al. 2021

Cancers

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“…AML with inv (16) and deletion of 3'CBFB has been reported in at least 14 cases and most of the deletions were detected by FISH using CBFB break-apart probes [10][11][12][13][14][15][16][17][18][19]. To our knowledge, only three cases were analyzed using microarray, and of these cases, only one reported unambiguous genomic coordinates of the deletion [10,11].…”

Section: Discussionmentioning

confidence: 99%

Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5’MYH11/3’CBFB gene fusion: a report of two cases and literature review.

2020

Preprint

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Background Abnormalities of chromosome 16 are found in about 5-8% of acute myeloid leukemia (AML). The AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) is associated with a high rate of complete remission (CR) and favorable overall survival (OS) when treated with high-dose Cytarabine. At the inversion breakpoints, deletion of 3’ CBFB has been reported, but most of them were studied by chromosome and fluorescence in situ hybridization (FISH) analyses. The genomic characteristics of such deletions remain largely undefined, hindering further understanding of the clinical significance of the deletions. Case presentation We report here two AML cases with inv(16) and deletion of the 5’ MYH11 /3’ CBFB gene fusion, which were characterized by chromosome, FISH, and single nucleotide polymorphism (SNP) microarray analyses. Both cases have achieved CR for more than three years. Conclusions Deletion of 3’ CBFB in AML with inv(16) is also accompanied with deletion of 5’ MYH11 in all the cases studied by SNP microarray, suggesting that 3’ CBFB and 5’ MYH11 were most likely deleted together as a fusion product of inv(16) instead of occurring separately. In concert with the findings of other published studies of similar patients, our study suggests that deletion of 5’ MYH11 /3’ CBFB in AML with inv(16) may not have negative impact on the prognosis of the disease.

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“…Less commonly, deletions, especially deletion of 3'CBFB, may occur at the inversion breakpoints. Fourteen cases with inv(16) and deletion of 3'CBFB have been reported in literature [10][11][12][13][14][15][16][17][18][19]. However, only three of them were studied by microarray analysis, and only one was reported with unambiguous breakpoint coordinates [10].…”

Section: Introductionmentioning

confidence: 99%

Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5’MYH11/3’CBFB gene fusion: a report of two cases and literature review

2020

Mol Cytogenet

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Background: Abnormalities of chromosome 16 are found in about 5-8% of acute myeloid leukemia (AML). The AML with inv(16)(p13.1q22) or t (16;16)(p13.1;q22) is associated with a high rate of complete remission (CR) and favorable overall survival (OS) when treated with high-dose Cytarabine. At the inversion breakpoints, deletion of 3'CBFB has been reported, but most of them were studied by chromosome and fluorescence in situ hybridization (FISH) analyses. The genomic characteristics of such deletions remain largely undefined, hindering further understanding of the clinical significance of the deletions. Case presentation: We report here two AML cases with inv(16) and deletion of the 5'MYH11/3'CBFB gene fusion, which were characterized by chromosome, FISH, and single nucleotide polymorphism (SNP) microarray analyses. Both cases have achieved CR for more than three years. Conclusions: Deletion of 3'CBFB in AML with inv(16) is also accompanied with deletion of 5'MYH11 in all the cases studied by SNP microarray, suggesting that 3'CBFB and 5'MYH11 were most likely deleted together as a fusion product of inv(16) instead of occurring separately. In concert with the findings of other published studies of similar patients, our study suggests that deletion of 5'MYH11/3'CBFB in AML with inv(16) may not have negative impact on the prognosis of the disease.

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Deletion of 3′CBFβ in an inv(16)(p13.lq22) ascertained by fluorescence in situ hybridization and reverse-transcriptase polymerase chain reaction

Cited by 9 publications

References 9 publications

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

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

Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5’MYH11/3’CBFB gene fusion: a report of two cases and literature review.

Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5’MYH11/3’CBFB gene fusion: a report of two cases and literature review

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