MYELODYSPLASTIC SYNDROME

CAT.# FP-011: MDS GENE CHROMOSOME DETECTION PROBE

IVD/RUO

BACKGROUND

Myelodysplastic syndrome (MDS) is a group of heterogeneous diseases that are thought to originate from hematopoietic stem cells and are malignant clonal diseases characterized by bone marrow failure, blood cell dysplasia, and high conversion to acute myeloid leukemia. Studies have shown that 40% to 60% of patients with MDS have non-random chromosomal abnormalities, of which -5/5q-, -7/7q-, +8, 20q- and -Y are the most common.

PROBE DESCRIPTION

This kit uses an orange-red fluorescent dye to label CSF1R, EGR1, D7S486, D7S522, D20S108, CEPY probes, and a green fluorescent dye to label D5S630, CEP7, CEP8 and CEPX probes. The probes bind to the target detection site by in situ hybridization. Under normal conditions (no gene deletion and chromosome abnormality), two orange-red signals and two green signals are shown under a fluorescence microscope. When there is a gene deletion, there will be a lack of green or orange-red signal, and when there is a chromosomal polysomy, the centromere gene probe signal will increase. The detection of gene deletion and chromosome abnormality by FISH method is of great clinical significance for the diagnosis, treatment and prognosis of MDS.

CLINICAL SIGNIFICANCE 

Some chromosomal abnormalities have specific diagnostic value among the common chromosome abnormalities in MDS patients. Immunosuppressive therapy is effective in some patients with simple +8, 20q- or Y- chromosomes. Karyotyping is also of great value in the classification, treatment and prognosis of MDS. For example, patients with single Y-, 5q- or 20q- chromosomes have better prognosis, while those with complex chromosome abnormalities (≥3 abnormalities) or chromosome 7 abnormalities have worse prognosis, while those with other abnormalities have moderate prognosis. The National Comprehensive Cancer Network – NCCN – guidelines and the Chinese Expert Consensus for the Diagnosis and Treatment of Myelodysplastic Syndrome (2014 Edition) recommend that all patients suspected of having MDS should undergo chromosomes detection, and fluorescence in situ hybridization probes (commonly abnormal sets of probes) are recommended. Abnormalities are important for the diagnosis, treatment, and prognosis of MDS.

     References

  • Boultwood J, et al. (2010) Blood 116: 5803-11.
  • Coleman JF, et al. (2011) Am J Clin Pathol 135: 915-20.
  • Tefferi A, et al. (2009) N Engl J Med 361: 1872-85.
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