t(5;7)(q35;q21) TLX3/CDK6
2013-02-01 Jean-Loup Huret   Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Clinics
Only two cases to date, a 5-year-old girl and a 8-year-old boy (Su et al., 2004).
Genes Involved and Proteins
Gene name
TLX3 (T-cell leukemia, homeobox protein 3)
Location
5q35.1
Protein description
Transcription factor. TLX3 controls region-specific neuronal identities. TLX3 and TLX1 suppress GABAergic differentiation and promote glutamatergic dorsal horn neurons (Cheng et al., 2004). TLX3 and RUNX1 coordinate the development of a cohort of nociceptors, thermoceptors and pruriceptors (Lopes et al., 2012). TLX3 is required for proper formation of first-order relay visceral sensory neurons, especially involved in the physiologic control of cardiovascular and respiratory systems (Qian et al. 2001). TLX3 is upregulated by Wnt/beta-catenin signaling (Kondo et al., 2011). Calcium signaling regulates neurotransmitter specification.Calcium signaling involves phosphorylation of JUN that regulates TLX3 transcription through a CRE site in its promoter (Marek et al., 2010). TLX3 has been found expressed in 60% of cases in a cohort of childhood T-cell ALL, but not in adult T-cell ALL cases nor in B-cell ALL cases (Mauvieux et al., 2002).
Gene name
CDK6 (cyclin dependent kinase 6)
Location
7q21.2
Protein description
Member of the CDK family; G1-phase kinase; CDK4 and CDK6 are both partners of the 3 D-type cyclins (CCND1, CCND2, CCND3) to phosphorylate pRb; ubiquitously expressed; regulates cell-cycle progression through the G1 phase in proliferating cells; CDK4 and CDK6 are not completely redundant (Grossel and Hinds, 2006).
Result of the Chromosomal Anomaly
Oncogenesis
Ectopic expression of TLX3.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15064766 | 2004 | Tlx3 and Tlx1 are post-mitotic selector genes determining glutamatergic over GABAergic cell fates. | Cheng L et al |
| 16410727 | 2006 | From cell cycle to differentiation: an expanding role for cdk6. | Grossel MJ et al |
| 21374761 | 2011 | Wnt signaling promotes neuronal differentiation from mesenchymal stem cells through activation of Tlx3. | Kondo T et al |
| 22787056 | 2012 | Tlx3 and Runx1 act in combination to coordinate the development of a cohort of nociceptors, thermoceptors, and pruriceptors. | Lopes C et al |
| 20581840 | 2010 | cJun integrates calcium activity and tlx3 expression to regulate neurotransmitter specification. | Marek KW et al |
| 12454747 | 2002 | High incidence of Hox11L2 expression in children with T-ALL. | Mauvieux L et al |
| 11581159 | 2001 | Formation of brainstem (nor)adrenergic centers and first-order relay visceral sensory neurons is dependent on homeodomain protein Rnx/Tlx3. | Qian Y et al |
| 15334547 | 2004 | Various types of rearrangements target TLX3 locus in T-cell acute lymphoblastic leukemia. | Su XY et al |
Citation
Jean-Loup Huret
t(5;7)(q35;q21) TLX3/CDK6
Atlas Genet Cytogenet Oncol Haematol. 2013-02-01
Online version: http://atlasgeneticsoncology.org/haematological/1491/t(5
