t(7;8)(p12;q24) /MYC
2013-10-01 Jean-Loup Huret Affiliation1.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).
- 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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 17230227 | 2007 | Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas. | Bertrand P et al |
| 21477865 | 2011 | The Ikaros gene family: transcriptional regulators of hematopoiesis and immunity. | John LB et al |
| 21725280 | 2011 | The 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
