Table 1.

Microsatellite instability analysis comparing the patient's DNA extracted from blood and tumor tissue

Microsatellite instability assay
National Cancer Institute markers
Alternate markers
Quasimonomorphic markers
Final result
Lab IDD2S123
D17S250
D5S346
BAT-25
BAT-26
D18S35
TP53-DI
D1S283
TP53-Penta
FGA
NR-21
NR-22
NR-24
(tumor/normal)(tumor/normal)(tumor/normal)
Proband-blood210/212147/162110/121122/124117/119102/119120/122162/195122/122195/207102/102139/139130/131Normal
Proband-tumorMSIMSI110/121MSI117/119MSIMSIMSIMSIMSIMSIMSIMSIMSI-high
LOHLOH
Mother212/226147/162108/110122/124117/119104/119116/120162/195122/127193/207102/102139/139130/132Normal
Father208/210156/162121/123124/124117/119102/117122/130195/197122/127195/199102/102139/139130/130Normal
  • NOTE: Microsatellite instability was done using 13 markers. Microsatellite instability testing on tumor DNA compared with germ line DNA from the patient revealed microsatellite instability in more than 40% of the markers tested. No constitutional instability was found in this patient compared with samples from the parents.

    Abbreviations: MSI, microsatellite instability; LOH, loss of heterozygosity.