Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts

作者：Valencia Ana^*; Cervera Jose; Such Esperanza; Ibanez Mariam; Gomez Ines; Luna Irene; Senent Leonor; Oltra Silvestre; Sanz Miguel A; Sanz Guillermo F

来源：Leukemia Research, 2011, 35(4): 479-483.

DOI：10.1016/j.leukres.2010.08.012

• Refractory anemia with ring sideroblasts
• Methylation
• MLPA
• MSP
• CDKN2B

This study evaluates the incidence and prognostic impact of aberrant methylation of 25 tumor suppressor genes in 40 patients with RARS, a MDS subtype, by methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay. Methylation of at least one gene was detected in 18 patients (45%). The genes methylated were CDKN2B (20%), RASSF1 (18%), RARB (10%), CDH13 (7.5%) and FHIT (5%). Patients with at least one methylated gene had a significantly shorter OS than patients without methylated genes. Aberrant methylation is a frequent event in patients with RARS as in patients with high-risk MDS appears to confer a worse prognosis.

• 出版日期2011-4