t(14;17)(q32;q21) IGH/IGF2BP1

2014-10-01   Sarah South  , Guangyu Gu  

1.Genetics Associates, Inc. Nashville, TN ggu@geneticsassociates.com (GG); Department of Pathology, University of Utah; ARUP Institute for Clinical, Experimental Pathology, ARUP Laboratories, Salt Lake City, UT Sarah.south@aruplab.com (SS)

Abstract

IGH rearrangements are a common chromosomal abnormality seen in lymphoproliferative disorders, including ALL. Numerous translocation partners of IGH gene have been identified. Here we report a B-ALL case with a t(14;17)(q32;q21) IGH/IGF2BP1.

Clinics and Pathology

Disease

B-cell acute lymphoblastic leukemia (ALL)

Phenotype stem cell origin

CD10+, CD19+, CD38+, cytoplastic CD22+ ALL

Epidemiology

Only one case, a 16 year old boy (Gu et al., 2014)

Clinics

Severe pancytopenia and an elevated lactate dehydrogenase (1048U/L); WBC was 2.7 X 10 9 with 20% blasts; no central nervous system involvement.

Genes Involved and Proteins

Gene name
IGH (Immunoglobulin Heavy)
Location
14q32.33
Gene name
IGF2BP1 (insulin-like growth factor 2 mRNA binding protein 1)
Location
17q21.32
Protein description
IGF2BP1 is a member of Insulin-like growth factor 2 mRNA-binding protein family; pro-oncogenic RNA-binding; post-transcriptional regulation of gene expression (Bell et al., 2013; Lederer et al., 2014).

Result of the Chromosomal Anomaly

Description

likely head-to-head fusion of IGF2BP1 with the IGH locus.

Oncogenesis

Overexpression of the IGF2BP1 gene.

Highly cited references

Pubmed IDYearTitleCitations
251951222014IGF2BP1: a novel IGH translocation partner in B acute lymphoblastic leukemia.6

Bibliography

Pubmed IDLast YearTitleAuthors
230699902013Insulin-like growth factor 2 mRNA-binding proteins (IGF2BPs): post-transcriptional drivers of cancer progression?Bell JL et al
251951222014IGF2BP1: a novel IGH translocation partner in B acute lymphoblastic leukemia.Gu G et al
250689942014The role of the oncofetal IGF2 mRNA-binding protein 3 (IGF2BP3) in cancer.Lederer M et al

Summary

Fusion gene

IGH/IGF2BP1 IGH (14q32.33) IGF2BP1 (17q21.32) M t(14;17)(q32;q21)

Mesh

1
Atlas Image
t(14;17)(q32;q21) G- Banding

Citation

Sarah South ; Guangyu Gu

t(14;17)(q32;q21) IGH/IGF2BP1

Atlas Genet Cytogenet Oncol Haematol. 2014-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1706/t(14;17)(q32;q21)