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.

Article 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/meetings/gene-explorer/js/web-card-_common.js