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- W2954697851 abstract "B-lymphoblastic leukemia/lymphoma (B-ALL) is the most common cancer of childhood. Recurrent genetic abnormalities in B-ALL confer varying prognostic significance. Relatively recently recognized are IKAROS (IKZF1) mutations and deletions, which are present in a high proportion of BCR-ABL1-positive (∼85%) and BCR-ABL1-like (∼70) B-ALL and are an independent predictor of poor outcome. Encoded at chromosome 7p12.2, IKZF1 is a DNA zinc finger transcription factor, a tumor suppressor gene, and a critical regulator of lymphopoiesis. The unfavorable prognostic effects of IKZF1 deletion with concurrent copy number alterations of PAX5, ETV6, RB1, CDKN2A, CDKN2B, ERG and PAR1 are well described. Here we present the cytogenetic and molecular findings from a case of B-ALL with a unique IKZF1 rearrangement in a 3-year-old female. The patient presented with a white blood cell count of 46 × 103/µL, including 77% B-lymphoblasts (CD10+, CD19+, CD20+, CD34+, CD45 dim+, TdT+ by flow cytometry). Bone marrow biopsy showed sheets of blasts and the following abnormal karyotype: 46,X,t(X;8)(q28;p11.2),t(7;12)(p12.2;p13),del(9)(p11.2)[4]/45,idem,-X,[3]/46,XX[13]. Fluorescence in situ hybridization (FISH) detected an IKZF1 rearrangement and CDKN2A and 5’ ETV6 deletions. Sequential FISH demonstrated the rearranged IKZF1 locus juxtaposed to the 3’ portion of ETV6. A single-nucleotide polymorphism (SNP) array detected a 122-Kb deletion proximal to IKZF1, a 32-Mb deletion of 9p24.1p13.1, encompassing the CDKN2A, CDKN2B, and PAX5 loci, and a 1.1-Mb deletion within 12p13.2. A Ph-like sequencing panel was negative for the tested gene fusions. Our case highlights a rare IKZF1 rearrangement with IKZF1-ETV6 juxtaposition. The prognostic effects and possible therapeutic implications of this rearrangement warrant further investigation." @default.
- W2954697851 created "2019-07-12" @default.
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- W2954697851 date "2019-04-01" @default.
- W2954697851 modified "2023-09-27" @default.
- W2954697851 title "52. A rare (7;12) translocation resulting in a rearrangement of the IKZF1 locus with concurrent deletion of CDKN2A, CDKN2B and PAX5 loci: an unannotated genetic abnormality in pediatric B-lymphoblastic leukemia/lymphoma" @default.
- W2954697851 doi "https://doi.org/10.1016/j.cancergen.2019.04.058" @default.
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