Akademik Veri Yönetim Sistemi
2nd international hereditary cancers congress, Antalya, Türkiye, 5 - 08 Şubat 2026, (Yayınlanmadı)
Wilms tumor is the most common pediatric renal malignancy and is frequently associated with genetic and chromosomal abnormalities. While well-known cancer predisposition syndromes account for a subset of cases, rare chromosomal microdeletions are increasingly recognized as contributors to tumor susceptibility. Microdeletions involving chromosome 9q22.3 have been associated with developmental delay, congenital anomalies, overgrowth phenotypes, and an increased risk of embryonal tumors,including Wilms tumor. The tumor risk in this region is thought to be related to haploinsufficiency of dosage-sensitive genes involved in growth regulation and genomic stability.
The patient is a 9-year-old girl with a prenatal history of increased nuchal translucency and polyhydramnios, while non-invasive prenatal testing was reported as normal. She was born at term with macrosomia and macrocephaly. Postnatal findings included hypotonia, ventricular septal defect, dysmorphic facial features, and global developmental delay. At four years of age, abdominal imaging revealed a renal mass, and histopathological examination confirmed Wilms tumor. The patient was treated withneoadjuvant chemotherapy followed by partial nephrectomy, with favorable clinical outcome. Conventional cytogenetic analysis revealed a normal female karyotype (46,XX).
Subsequent chromosomal microarray analysis identified a de novo 4.5 Mb microdeletion at chromosome region 9q22.32–q22.33.Parental studies confirmed the de novo origin of the deletion.
The deleted region encompasses approximately 27 genes, including PTCH1 and FANCC, which are known to play roles in tumorsuppression, genomic stability, and growth regulation. PTCH1 is a key component of the Hedgehog signaling pathway and has been associated with overgrowth phenotypes and embryonal tumor development. FANCC is involved in DNA repair pathways, and its disruption has been linked to increased cancer susceptibility. Previous studies have reported an elevated risk of Wilms tumor among individuals with 9q22.3 microdeletion. In a cohort of 44 reported patients with this deletion, 7 (16%) developed Wilms tumor at a mean age of 45 months, often accompanied by macrocephaly, dysmorphic features, developmental delay, and overgrowth. These findings support a genotype–phenotype correlation between haploinsufficiency of genes within the 9q22.3 region and predisposition to embryonal tumors.
Conclusion
This case further supports the association between 9q22.3 microdeletion and Wilms tumor and highlights the importance of chromosomal microarray analysis in pediatric cancer patients with congenital anomalies and developmental delay. Identification ofsuch genomic alterations is critical for accurate cancer risk assessment, surveillance strategies, and genetic counseling. Given the potential tumor predisposition associated with this microdeletion, long-term follow-up and individualized monitoring should be considered in affected patients.