Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits

Park, Tae Sung; Lee, Seung Tae; Song, Jaewoo; Lee, Kyung A.; Lee, Jong Han; Lee, Hyeon Ji; Han, Jeong Hyun; Kim, Jong Kee; Cho, Sung Ran; Choi, Jong Rak

doi:10.1016/j.cancergencyto.2008.10.012

Cited by 17 publications

(18 citation statements)

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“…15,16 More than 85% of fusions are type A, and 5%-10% each are type D and type E fusions. [15][16][17][18][19][20] Fusion types B, C, and F-K have been reported mostly in single cases. [15][16][17][18][19][20] To our knowledge, only one study examined the biologic and clinical significance of different CBFB-MYH11 fusions, but did not characterize the KIT mutation status.…”

Section: Introductionmentioning

confidence: 99%

“…[15][16][17][18][19][20] Fusion types B, C, and F-K have been reported mostly in single cases. [15][16][17][18][19][20] To our knowledge, only one study examined the biologic and clinical significance of different CBFB-MYH11 fusions, but did not characterize the KIT mutation status. 18 Here, we report the frequency of CBFB-MYH11 fusion transcripts, their associations with cytogenetic and clinical characteristics, KIT mutation status, and the fusion transcripts impact on prognosis in a relatively large cohort of patients with de novo inv(16)/t(16;16) AML.…”

Section: Introductionmentioning

confidence: 99%

“…13,14 Because of the variability of the genomic breakpoints within CBFB and MYH11, more than 10 differently sized CBFB-MYH11 fusion transcript variants have been reported. 15,16 More than 85% of fusions are type A, and 5%-10% each are type D and type E fusions. [15][16][17][18][19][20] Fusion types B, C, and F-K have been reported mostly in single cases.…”

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inv(16)/t(16;16) acute myeloid leukemia with non–type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations

Schwind

Edwards

Nicolet

et al. 2013

Blood

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• Patients with inv(16) non-typeA CBFB-MYH11 fusions lack KIT mutations and have distinct clinical and cytogenetic features.• inv(16) non-type A fusions have a distinct geneexpression profile with upregulation of genes associated with apoptosis, differentiation, and cell cycle.The inv(16)(p13q22)/t(16;16)(p13;q22) in acute myeloid leukemia results in multiple CBFB-MYH11 fusion transcripts, with type A being most frequent. The biologic and prognostic implications of different fusions are unclear. We analyzed CBFB-MYH11 fusion types in 208 inv(16)/t(16;16) patients with de novo disease, and compared clinical and cytogenetic features and the KIT mutation status between type A (n ‫؍‬ 182; 87%) and non-type A (n ‫؍‬ 26; 13%) patients. At diagnosis, non-type A patients had lower white blood counts (P ‫؍‬ .007), and more often trisomies of chromosomes 8 (P ‫؍‬ .01) and 21 (P < .001) and less often trisomy 22 (P ‫؍‬ .02). No patient with non-type A fusion carried a KIT mutation, whereas 27% of type A patients did (P ‫؍‬ .002). Among the latter, KIT mutations conferred adverse prognosis; clinical outcomes of non-type A and type A patients with wild-type KIT were similar. We also derived a fusion-type-associated global gene-expression profile. Gene Ontology analysis of the differentially expressed genes revealed-among others-an enrichment of up-regulated genes involved in activation of caspase activity, cell differentiation and cell cycle control in non-type A patients. We conclude that non-type A fusions associate with distinctclinical and genetic features, including lack of KIT mutations, and a unique gene-expression profile. (Blood. 2013;121(2): 385-391) IntroductionApproximately 5%-7% of acute myeloid leukemia (AML) patients have an inv(16)(p13q22) or t(16;16)(p13;q22) [hereafter referred to as inv(16)/t(16;16)]. [1][2][3] This cytogenetic group is usually associated with high complete remission (CR) rates and a relatively favorable outcome, especially when treated with repetitive cycles of highdose cytarabine as consolidation therapy. 4,5 However, 30%-40% of these patients experience relapse. [6][7][8][9][10] We and others reported that the presence of a KIT mutation confers worse outcome in inv(16)/t(16;16) patients. [10][11][12] Molecularly, inv(16)/t(16;16) results in the juxtaposition of the myosin, heavy chain 11, smooth muscle gene (MYH11) at 16p13 and the core-binding factor, ␤ subunit gene (CBFB) at 16q22, and creation of the CBFB-MYH11 fusion gene. 13,14 Because of the variability of the genomic breakpoints within CBFB and MYH11, more than 10 differently sized CBFB-MYH11 fusion transcript variants have been reported. 15,16 More than 85% of fusions are type A, and 5%-10% each are type D and type E fusions. [15][16][17][18][19][20] Fusion types B, C, and F-K have been reported mostly in single cases. [15][16][17][18][19][20] To our knowledge, only one study examined the biologic and clinical significance of different CBFB-MYH11 fusions, but did not characterize the KIT mutation status. 18 Here, we report the ...

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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inv(16)/t(16;16) acute myeloid leukemia with non–type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations

Schwind

Edwards

Nicolet

et al. 2013

Blood

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“…The majority of AML with inv(16) or t(16;16) show transcript type A, which usually displays typical morphology of FAB M4eo. Other rare fusion transcript types are frequently associated with atypical morphology and other aberrant characteristics [9,12,13] . The case reported in this study lacked the typical morphology of AML M4eo and therefore most likely belonged to a rare fusion transcript variant.…”

Section: Discussionmentioning

confidence: 99%

“…Since breakpoints at both CBFB and MYH11 gene are variable, the CBFB-MYH11 fusion transcripts are heterogeneous. To date, at least 14 fusions with different lengths have been reported [10][11][12] . The majority of AML with inv(16) or t(16;16) show transcript type A, which usually displays typical morphology of FAB M4eo.…”

Section: Discussionmentioning

confidence: 99%

Rare CBFB-MYH11 cryptic rearrangement in acute myeloid leukemia with ins(16)(p13.1q22q22)

et al. 2017

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Acute myeloid leukemia (AML) with CBFB-MYH11 fusion gene is almost always associated with either inv(16)(p13.1q22) or t(16;16)(p13.1;q22). Only a few variants leading to formation of this chimeric gene have been reported. In this report, we describe a novel type of CBFB-MYH11 fusion variant generated by an insertion of CBFB into the MYH11 gene, which is identifiable by fluorescence in situ hybridization (FISH).

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Recurrent Cytogenetic Abnormalities in Acute Myeloid Leukemia

Yang

Park

Wan

2016

Methods in Molecular Biology

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The spectrum of chromosomal abnormality associated with leukemogenesis of acute myeloid leukemia (AML) is broad and heterogeneous when compared to chronic myeloid leukemia and other myeloid neoplasms. Recurrent chromosomal translocations such as t(8;21), t(15;17), and inv(16) are frequently detected, but hundreds of other uncommon chromosomal aberrations from AML also exist. This chapter discusses 22 chromosomal abnormalities that are common structural, numerical aberrations, and other important but infrequent (less than 1 %) translocations emphasized in the WHO classification. Brief morphologic, cytogenetic, and clinical characteristics are summarized, so as to provide a concise reference to cancer cytogenetic laboratories. Morphology based on FAB classification is used together with the current WHO classification due to frequent mentioning in a vast number of reference literatures. Characteristic chromosomal aberrations of other myeloid neoplasms such as myelodysplastic syndrome and myeloproliferative neoplasm will be discussed in separate chapters-except for certain abnormalities such as t(9;22) in de novo AML. Gene mutations detected in normal karyotype AML by cutting edge next generation sequencing technology are also briefly mentioned.

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Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits

Cited by 17 publications

References 9 publications

inv(16)/t(16;16) acute myeloid leukemia with non–type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations

inv(16)/t(16;16) acute myeloid leukemia with non–type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations

Rare CBFB-MYH11 cryptic rearrangement in acute myeloid leukemia with ins(16)(p13.1q22q22)

Recurrent Cytogenetic Abnormalities in Acute Myeloid Leukemia

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