t(5;7)(q35;q21) TLX3/CDK6

2013-02-01   Jean-Loup Huret 

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

Clinics and Pathology

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.

Bibliography

Pubmed IDLast YearTitleAuthors
150647662004Tlx3 and Tlx1 are post-mitotic selector genes determining glutamatergic over GABAergic cell fates.Cheng L et al
164107272006From cell cycle to differentiation: an expanding role for cdk6.Grossel MJ et al
213747612011Wnt signaling promotes neuronal differentiation from mesenchymal stem cells through activation of Tlx3.Kondo T et al
227870562012Tlx3 and Runx1 act in combination to coordinate the development of a cohort of nociceptors, thermoceptors, and pruriceptors.Lopes C et al
205818402010cJun integrates calcium activity and tlx3 expression to regulate neurotransmitter specification.Marek KW et al
124547472002High incidence of Hox11L2 expression in children with T-ALL.Mauvieux L et al
115811592001Formation of brainstem (nor)adrenergic centers and first-order relay visceral sensory neurons is dependent on homeodomain protein Rnx/Tlx3.Qian Y et al
153345472004Various 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;7)(q35;q21)-tlx3-cdk6

External Links