&lt;b&gt;&lt;i&gt;MYC&lt;/i&gt;&lt;/b&gt; Amplification in the Form of Ring Chromosomes 8 in Acute Myeloid Leukemia with t(11;16)(q13;p11.2)

Yamamoto, Katsuya; Kawamoto, Shinichiro; Kurata, Keiji; Kitao, Akihito; Mizutani, Yu; Ichikawa, Hiroya; Yakushijin, Kimikazu; Kajimoto, Kazuyoshi; Hayashi, Yoshitake; Matsuoka, Hiroshi; Minami, Hironobu

doi:10.1159/000486328

Cited by 3 publications

(2 citation statements)

References 21 publications

(26 reference statements)

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“…In short, SKY was not able to identify the origin of dmin. In contrast, we previously demonstrated that dmin and ring chromosomes with MYC amplification in AML were completely labeled with the color of chromosome 8 by SKY [11,15]. Thus, it is possible that dmin contained chromosomal segments other than chromosome 8, suggesting that additional oncogenes originating from other chromosomes might be co-amplified with MYC.…”

Section: Discussionmentioning

confidence: 78%

MYC amplification on double minute chromosomes in plasma cell leukemia with double IGH/CCND1 fusion genes

et al. 2020

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Section: Discussionmentioning

confidence: 78%

MYC amplification on double minute chromosomes in plasma cell leukemia with double IGH/CCND1 fusion genes

et al. 2020

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“…3 b). To date, ring chromosome 8 has been reported in one prostate cancer patient [ 42 ] and four AML patients [ 43 – 46 ]. Previous studies have reported that the presence of ring chromosomes is associated with genomic instability and leads to numerous secondary chromosome rearrangements [ 47 ].…”

Section: Discussionmentioning

confidence: 99%

Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway

et al. 2022

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Background Rearrangements involving the fibroblast growth factor receptor 1 (FGFR1) gene result in 8p11 myeloproliferative syndrome (EMS), which is a rare and aggressive hematological malignancy that is often initially diagnosed as myelodysplastic syndrome (MDS). Clinical outcomes are typically poor due to relative resistance to tyrosine kinase inhibitors (TKIs) and rapid transformation to acute leukemia. Deciphering the transcriptomic signature of FGFR1 fusions may open new treatment strategies for FGFR1 rearrangement patients. Methods DNA sequencing (DNA-seq) was performed for 20 MDS patients and whole exome sequencing (WES) was performed for one HOOK3-FGFR1 fusion positive patient. RNA sequencing (RNA-seq) was performed for 20 MDS patients and 8 healthy donors. Fusion genes were detected using the STAR-Fusion tool. Fluorescence in situ hybridization (FISH), quantitative real-time PCR (qRT-PCR), and Sanger sequencing were used to confirm the HOOK3-FGFR1 fusion gene. The phosphorylation antibody array was performed to validate the activation of nuclear factor-kappaB (NF-kappaB) signaling. Results We identified frequently recurrent mutations of ASXL1 and U2AF1 in the MDS cohort, which is consistent with previous reports. We also identified a novel in-frame HOOK3-FGFR1 fusion gene in one MDS case with abnormal monoclonal B-cell lymphocytosis and ring chromosome 8. FISH analysis detected the FGFR1 break-apart signal in myeloid blasts only. qRT-PCR and Sanger sequencing confirmed the HOOK3-FGFR1 fusion transcript with breakpoints located at the 11th exon of HOOK3 and 10th exon of FGFR1, and Western blot detected the chimeric HOOK3-FGFR1 fusion protein that is presumed to retain the entire tyrosine kinase domain of FGFR1. The transcriptional feature of HOOK3-FGFR1 fusion was characterized by the significant enrichment of the NF-kappaB pathway by comparing the expression profiling of FGFR1 fusion positive MDS with 8 healthy donors and FGFR1 fusion negative MDS patients. Further validation by phosphorylation antibody array also showed NF-kappaB activation, as evidenced by increased phosphorylation of p65 (Ser 536) and of IKBalpha (Ser 32). Conclusions The HOOK3-FGFR1 fusion gene may contribute to the pathogenesis of MDS and activate the NF-kappaB pathway. These findings highlight a potential novel approach for combination therapy for FGFR1 rearrangement patients.

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A rare FBXO25–SEPT14 fusion in a patient with chronic myeloid leukemia treatment to tyrosine kinase inhibitors: a case report

Liao,

Liu,

Wei

et al. 2023

Oncologie

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Objectives Exploring the pathogenesis of resistance to tyrosine kinase inhibitors in patients with chronic myeloid leukemia. Case presentation This case report describes a rare fusion of FBXO25 and SEPT14 genes in a 58-year-old male patient with chronic myeloid leukemia. The patient had been treated with tyrosine kinase inhibitors for one year. After 6 months of imatinib treatment, the patient's symptoms improved significantly and the complete blood count returned to normal, but the optimal ratio of BCR::ABL transcripts to ABL transcripts is greater than 10 % indicating treatment failure. Then we switched to a second generation TKIs to continue treatment, During the Flumatinib treatment period, the patient developed severe bone marrow suppression and exhibited additional cytogenetic abnormalities involving chromosome aberration: 47, XY,+8[5]/47, idem, inv(Y)(p11.2q11.23)[15]. By adjusting the drug dose and elevating blood cells, the patient’s BCR::ABL P210/ABL was 2.56 % after six months of Flumatinib treatment. The patient’s BCR::ABL P210/ABL consistently remained above 1 % throughout the treatment, and additional cytogenetic abnormalities were present. Next-generation sequencing revealed the recombination of exon 4 of the FBXO25 and exon 10 of the SEPT14, and this mutation has not been previously reported. Conclusions Our findings suggest that the FBXO25-SEPT14 fusion may be associated with tyrosine kinase inhibitors resistance in chronic myeloid leukemia.

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<b><i>MYC</i></b> Amplification in the Form of Ring Chromosomes 8 in Acute Myeloid Leukemia with t(11;16)(q13;p11.2)

Cited by 3 publications

References 21 publications

MYC amplification on double minute chromosomes in plasma cell leukemia with double IGH/CCND1 fusion genes

MYC amplification on double minute chromosomes in plasma cell leukemia with double IGH/CCND1 fusion genes

Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway

A rare FBXO25–SEPT14 fusion in a patient with chronic myeloid leukemia treatment to tyrosine kinase inhibitors: a case report

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