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Association of DROSHA Variants with Susceptibility and Outcomes in Childhood Acute Lymphoblastic Leukemia

Ioannis Kyriakidis1, Iordanis Pelagiadis1, Charalampos Pontikoglou2

  • 1Department of Pediatric Hematology-Oncology & Autologous Hematopoietic Stem Cell Transplantation Unit, University Hospital of Heraklion & Laboratory of Blood Diseases and Childhood Cancer Biology, School of Medicine, University of Crete, 71003 Heraklion, Greece.

Current Issues in Molecular Biology
|July 23, 2025
PubMed

Insights

Certain DROSHA gene polymorphisms may influence childhood acute lymphoblastic leukemia (ALL) risk and outcomes in Greek children. Further studies are needed to confirm these associations with pediatric ALL.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • MicroRNAs are crucial regulators in lymphoid differentiation and play a significant role in acute lymphoblastic leukemia (ALL) biology and prognosis.
  • The microprocessor complex, involving Drosha, processes primary miRNA transcripts into precursor miRNAs, a key step in miRNA biogenesis.
  • DROSHA gene polymorphisms have been previously linked to pediatric ALL and cancer risk.

Purpose of the Study:

  • To investigate the association of specific DROSHA polymorphisms (rs642321, rs3805500, rs10035440) with ALL susceptibility in children and adolescents of Greek descent.
  • To evaluate the role of these DROSHA polymorphisms in relation to relapse and overall outcomes in pediatric ALL patients.

Main Methods:

  • A case-control study involving 252 children and adolescents (115 ALL cases, 137 controls) of Greek descent.
  • Genotyping of DROSHA polymorphisms rs642321, rs3805500, and rs10035440 was performed using RT-qPCR and the TaqMan Genotyping Assay.

Main Results:

  • Homozygotes for the minor allele of DROSHA rs642321 showed a nominal association with increased ALL susceptibility (OR 4.5, padj = 0.034).
  • Homozygotes for the minor allele of DROSHA rs3805500 were linked to a higher risk of ALL (OR 2.7, padj = 0.012).
  • The rs3805500 AG genotype was suggestively associated with relapse (OR 5.8, padj = 0.011) and deceased cases (OR 5, padj = 0.038), with a trend towards poorer overall survival for AG and GG genotypes.

Conclusions:

  • Specific DROSHA gene polymorphisms may be modestly associated with the susceptibility to childhood ALL in the studied Greek population.
  • Certain DROSHA genotypes appear linked to adverse outcomes, including relapse and survival, in pediatric ALL patients.
  • These findings warrant validation in larger, independent cohorts to confirm the role of DROSHA polymorphisms in pediatric ALL.
Keywords:
Droshaacute lymphoblastic leukemiachildhooddisease susceptibilitymicroRNAmicroprocessorpolymorphismprognosisrelapsesurvival

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