Validation by RQ-PCR and flow cytometry of γ-defensin1-3 (DEFA1-3) overexpression in relapsed and refractory acute lymphoblastic leukemia

Geertruy Te Kronnie, Silvio Bicciato, Lisa Franceschini, Benedetta Accordi, Marta Campo Dellíorto, Andrea Rinaldi, Andrea Pession, Elena Barisone, Valentino Conter, Franco Locatelli, Giuseppe Basso

Research output: Contribution to journalArticlepeer-review


In spite of high cure rates and improved overall survival, 25% of pediatric patients with acute lymphoblastic leukemia (ALL) relapse after obtaining complete remission. Additionally a small proportion of patients are refractory and do not attain remission. Microarray expression analysis of matched diagnosis-relapse B-lineage ALL sample pairs identified DEFA1-3 as a potential marker of relapse. Here, validation of DEFA1-3 as a marker for therapy resistance is explored. DEFA1-3 expression was analysed by RQ-PCR in patient paired samples at diagnosis and relapse of 6 early-relapse (within 18 months) and 8 late-relapse (beyond 18 months) B-lineage ALL. Diagnostic samples of 19 patients with ALL who are in continuous complete remission (median time from diagnosis 47 month) and diagnostic samples of 5 refractory patients who had not achieved remission at day 35 of therapy were also analyzed. In addition, overexpression of α-defensin1-3 proteins in blast cells at relapse was analysed by flow cytometry. DEFA1-3 was overexpressed at relapse as compared to diagnosis in 12 of 14 samples. At diagnosis, the expression of DEFA1-3 was significantly higher in samples from refractory patients as compared to those of patients who are in CR and to those of patients who experienced late relapse. At diagnosis, patients who relapsed early after diagnosis could not be distinguished from refractory patients based on DEFA1-3 expression levels. Results suggest that high levels of DEFA1-3 mRNA and α-defensin1-3 protein expression are correlated with disease progression and failure of adequate response to conventional chemotherapy.

Original languageEnglish
Pages (from-to)341-346
Number of pages6
JournalOncology Reports
Issue number2
Publication statusPublished - Feb 2006


  • B-lineage acute lymphoblastic leukemia
  • DEFA1-3
  • Drug resistance
  • Expression profiling
  • Microarray
  • Relapse

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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