Molecular and epidemiologic characterization of Wilms tumor from Baghdad, Iraq

World J Pediatr. 2018 Dec;14(6):585-593. doi: 10.1007/s12519-018-0181-3. Epub 2018 Aug 28.

Abstract

Background: Wilms tumor (WT) is the most common childhood kidney cancer worldwide, yet its incidence and clinical behavior vary according to race and access to adequate healthcare resources. To guide and streamline therapy in the war-torn and resource-constrained city of Baghdad, Iraq, we conducted a first-ever molecular analysis of 20 WT specimens to characterize the biological features of this lethal disease within this challenged population.

Methods: Next-generation sequencing of ten target genes associated with WT development and treatment resistance (WT1, CTNNB1, WTX, IGF2, CITED1, SIX2, p53, N-MYC, CRABP2, and TOP2A) was completed. Immunohistochemistry was performed for 6 marker proteins of WT (WT1, CTNNB1, NCAM, CITED1, SIX2, and p53). Patient outcomes were compiled.

Results: Mutations were detected in previously described WT "hot spots" (e.g., WT1 and CTNNB1) as well as novel loci that may be unique to the Iraqi population. Immunohistochemistry showed expression domains most typical of blastemal-predominant WT. Remarkably, despite the challenges facing families and care providers, only one child, with combined WT1 and CTNNB1 mutations, was confirmed dead from disease. Median clinical follow-up was 40.5 months (range 6-78 months).

Conclusions: These data suggest that WT biology within a population of Iraqi children manifests features both similar to and unique from disease variants in other regions of the world. These observations will help to risk stratify WT patients living in this difficult environment to more or less intensive therapies and to focus treatment on cell-specific targets.

Keywords: Iraq; Low- and middle-income countries; Next-generation sequencing; Pediatric cancer; Wilms tumor.

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Apoptosis Regulatory Proteins
  • Child, Preschool
  • DNA Topoisomerases, Type II / genetics
  • Female
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • Humans
  • Immunohistochemistry
  • Infant
  • Insulin-Like Growth Factor II / genetics
  • Iraq
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / metabolism*
  • Kidney Neoplasms / pathology
  • Male
  • Multiplex Polymerase Chain Reaction
  • Mutation
  • N-Myc Proto-Oncogene Protein / genetics
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Neural Cell Adhesion Molecules / metabolism
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Poly-ADP-Ribose Binding Proteins / genetics
  • Receptors, Retinoic Acid / genetics
  • Sequence Analysis, DNA / methods
  • Trans-Activators
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / metabolism
  • Tumor Suppressor Proteins / genetics
  • WT1 Proteins / genetics
  • WT1 Proteins / metabolism
  • Wilms Tumor / genetics*
  • Wilms Tumor / metabolism*
  • Wilms Tumor / pathology
  • beta Catenin / genetics
  • beta Catenin / metabolism

Substances

  • AMER1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Apoptosis Regulatory Proteins
  • CITED1 protein, human
  • CTNNB1 protein, human
  • Homeodomain Proteins
  • IGF2 protein, human
  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein
  • Nerve Tissue Proteins
  • Neural Cell Adhesion Molecules
  • Nuclear Proteins
  • Poly-ADP-Ribose Binding Proteins
  • Receptors, Retinoic Acid
  • SIX2 protein, human
  • Trans-Activators
  • Transcription Factors
  • Tumor Suppressor Protein p53
  • Tumor Suppressor Proteins
  • WT1 Proteins
  • WT1 protein, human
  • beta Catenin
  • retinoic acid binding protein II, cellular
  • Insulin-Like Growth Factor II
  • DNA Topoisomerases, Type II
  • TOP2A protein, human