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SF3B1 BY SEQUENCING, NON-BLOOD

Test Code: NSF3B1
Description: SF3B1 encodes sub-unit 1 of the splicing factor 3b protein complex. It has recently become apparent that somatic mutations of genes like SF3B1 that encode components of the RNA splicing machinery play a role in the pathophysiology of MDS and other hematologic malignancies.

Myelodysplastic Syndrome: In patients with low-grade myelodysplasias, somatically acquired mutations in the SF3B1 gene have been identified in 20% of patients, particularly in patients whose disease is characterized by ring sideroblasts (65%). Patients who are positive for SF3B1 mutations have been shown to have fewer cytopenias and longer event-free survival than patients without mutations. Thus, a positive result for SF3B1 mutation in a myelodysplastic patient confers a more favorable prognosis, whereas a negative result is less favorable. However, it is also possible that SF3B1 mutations may be acquired in other exons not tested by this assay.

Chronic lymphocytic leukemia (CLL): SF3B1 mutations have been observed in patients with CLL (15%), and are frequently associated with del(11q) chromosomal deletions (36%). CLL patients with SF3B1 mutations typically have shorter times to initial treatment compared to patients without SF3B1 mutations. Thus, a positive result for SF3B1 mutation in a CLL patient confers a less favorable prognosis, whereas a negative result is more favorable. However, it is also possible that SF3B1 mutations may be acquired in exons not tested by this assay.

DNA was chosen as a starting material for detection of SF3B1 mutations because this assay should be performed on diagnostic specimens in which the blast percent is high. The method employs the PCR amplification of exons 14 and 15 followed by direct sequencing. The mutations cluster at amino acids 622, 625, 662, 666 and 700 in these two exons.


 
 


 
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