t(8;17)(q24;q22) ???BCL3/MYC

2011-10-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

Aggresive prolymphocytic leukemia

Epidemiology

Only one case to date, with no clinical data.

Genes Involved and Proteins

Note
As said above, it is unprobable that the MYC partner is BCL3.
Gene name
MYC v-myc myelocytomatosis viral oncogene homolog (avian)
Location
8q24.21
Protein description
MYC regulates the transcription of genes required to coordinate a range of cellular processes, including those essential for proliferation, growth, differentiation, apoptosis and self-renewal, and protein synthesis through ribosome biogenesis (van Riggelen et al., 2010).
Gene name
BCL3 (B-cell CLL/lymphoma 3)
Location
19q13.32
Protein description
BCL3 is mainly found in the nucleus. Protein which contains seven ankyrin repeats. Ankyrin repeats are found in IkB family members, including IkBa, IkBb, and IkBe. BCL3 is a member of the IkappaB family, whose proteins regulate the NFkappaB family of transcription factors. Component of a complex with a NF-kB p52-p52 homodimer Down-regulates inflammatory responses through limiting the transcription of NF-kB-dependent genes. Binds to NF-kB p50 and p52, Jab1, Pirin, Tip60 and Bard1. Bcl-3 is an adaptor protein (Dechend et al., 1999; Kreisel et al., 2011). Regulates genes involved in cell proliferation and apoptosis. NFkappaB plays a major role in B-cell development.

Result of the Chromosomal Anomaly

Description

Disruption of MYC close to the first intron, with the decapitation of the first intron, replaced by a sequence of 1.7 kb, that the authors have called "BCL3".

Bibliography

Pubmed IDLast YearTitleAuthors
103623521999The Bcl-3 oncoprotein acts as a bridging factor between NF-kappaB/Rel and nuclear co-regulators.Dechend R et al
26826631989Activation of MYC in a masked t(8;17) translocation results in an aggressive B-cell leukemia.Gauwerky CE et al
211570412011Bcl3 prevents acute inflammatory lung injury in mice by restraining emergency granulopoiesis.Kreisel D et al
203327792010MYC as a regulator of ribosome biogenesis and protein synthesis.van Riggelen J et al

Summary

Note

It is unlikely that the BCL3 gene (HGNC official name) is involved in this translocation with a breakpoint in 17q22, since BCL3 sits in 19q13.32 (coordonates: starts at 45251978 and ends at 45263301 bp from 19pter); the alternative would be a cryptic translocation, involving a cryptic inserted fragment of 19q13.32, including BCL3, within 17q22.

Citation

Jean-Loup Huret

t(8;17)(q24;q22) ???BCL3/MYC

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1494/t(8;17)(q24;q22)

External Links