SONDY / MetaSystems
XL CUX1/EZH2/7cen
XL CUX1/EZH2/7cen consists of an orange-labeled probe hybridizing to the CUX1 gene region at 7q22, a green-labeled probe hybridizing to
the EZH2 gene region at 7q36 and an aqua-labeled probe hybridizing to the centromere of chromosome 7.
Partial deletions of the long arm of chromosome 7 [del(7q),7q-] or monosomy 7 (-7) are highly recurrent chromosomal aberrations frequently observed in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). In MDS and AML, del(7q) as sole cytogenetic aberration has a prevalence of less than 5%. However, many of the examined patients with del(7q) have additional cytogenetic aberrations. Furthermore, whole-exome sequencing studies analyzed the coincidence of mutated genes (e.g. CUX1, LUCL2, CUL1, and EZH2) and -7 or del(7q).
7q deletions are assigned to the intermediate genetic prognostic risk group (ELN risk stratification) or the high risk prognostic group (revised MRC classification), in AML. However, 7q- are classified by the revised IPSS (International prognostic scoring system) as \'intermediate cytogenetic prognostic risk\' or \'poor risk\' - if coincide with another abnormality, in MDS.
Several deleted regions have been identified along the long arm of chromosome 7, but two critical genomic regions are known to be commonly deleted regions (CDRs): 7q22 and 7q31-q36. Studies focusing on CDRs on 7q have highlighted the significance of the gene loci of EZH2, SAMD9L, CUX1, MLL3, and DOCK4, whose assumed roles as tumor suppressor genes could explain the criticality of their haploinsufficiency.
The CUX1 gene locus has been described as frequently deleted locus in case of 7q deletions, increasing the accuracy of the diagnosis of 7q22 deletions.
Cena za kus: pro registrované
the EZH2 gene region at 7q36 and an aqua-labeled probe hybridizing to the centromere of chromosome 7.
Partial deletions of the long arm of chromosome 7 [del(7q),7q-] or monosomy 7 (-7) are highly recurrent chromosomal aberrations frequently observed in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). In MDS and AML, del(7q) as sole cytogenetic aberration has a prevalence of less than 5%. However, many of the examined patients with del(7q) have additional cytogenetic aberrations. Furthermore, whole-exome sequencing studies analyzed the coincidence of mutated genes (e.g. CUX1, LUCL2, CUL1, and EZH2) and -7 or del(7q).
7q deletions are assigned to the intermediate genetic prognostic risk group (ELN risk stratification) or the high risk prognostic group (revised MRC classification), in AML. However, 7q- are classified by the revised IPSS (International prognostic scoring system) as \'intermediate cytogenetic prognostic risk\' or \'poor risk\' - if coincide with another abnormality, in MDS.
Several deleted regions have been identified along the long arm of chromosome 7, but two critical genomic regions are known to be commonly deleted regions (CDRs): 7q22 and 7q31-q36. Studies focusing on CDRs on 7q have highlighted the significance of the gene loci of EZH2, SAMD9L, CUX1, MLL3, and DOCK4, whose assumed roles as tumor suppressor genes could explain the criticality of their haploinsufficiency.
The CUX1 gene locus has been described as frequently deleted locus in case of 7q deletions, increasing the accuracy of the diagnosis of 7q22 deletions.
Cena za kus: pro registrované
