t(7;8)(p12;q24) /MYC

2013-10-01   Jean-Loup Huret 

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

Clinics and Pathology

Disease

Diffuse large B-cell lymphoma (DLBCL)

Epidemiology

One case to date, a female patient aged 80 years (Bertrand et al., 2007).

Prognosis

The patient died 6 months after diagnosis.

Genes Involved and Proteins

Note
Breakpoints occurred close to MYC in 8q24 and 100 kb from COBL and 1Mb from IKZF1 in 7p12.
- COBL is an actin nucleator which uses its WH2 domains for binding actin, to promote actin filament formation. Role in neuromorphogenesis (dendrite formation and dendritic arborisation) (Schwintzer et al., 2011).
- IKZF1 is a zinc finger transcription factor involved in both activation and repression of target genes. IKZF1 is expressed during early embryonic hematopoiesis, including hematopoietic stem cells, lymphoid precursors, erythroid precursors, and myeloid precursors. It is also expressed in developing striatal neurons. In the adult, IKZF1 expression is mainly restricted to lymphopoietic tissues and peripheral blood leukocytes (review in John and Ward, 2011).
Gene name
MYC v-myc myelocytomatosis viral oncogene homolog (avian)
Location
8q24.21
Protein description
DNA binding protein. Binds DNA as a heterodimer with MAX. Involved in various cellular processes including cell growth, proliferation, cell adhesion, apoptosis, angiogenesis, and stem cell behaviour modulation.

Bibliography

Pubmed IDLast YearTitleAuthors
172302272007Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas.Bertrand P et al
214778652011The Ikaros gene family: transcriptional regulators of hematopoiesis and immunity.John LB et al
217252802011The functions of the actin nucleator Cobl in cellular morphogenesis critically depend on syndapin I.Schwintzer L et al

Citation

Jean-Loup Huret

t(7;8)(p12;q24) /MYC

Atlas Genet Cytogenet Oncol Haematol. 2013-10-01

Online version: http://atlasgeneticsoncology.org/haematological/2140/t(7;8)(p12;q24)