Cancer Research Lab

The prevalence of morphological abnormalities is elevated in patients with pediatric cancers, a finding that suggests “an important role of constitutional genetic defects and/or prenatal environmental factors in pediatric oncogenesis,” Dutch investigators report.

Dr. Johannes H. M. Merks and associates at the Academic Medical Center in Amsterdam compared the prevalence of morphological abnormalities among 175 children newly diagnosed with cancer, 898 long-term survivors of childhood cancer, and 1007 schoolchildren who served as controls.

Subjects were evaluated for 214 age-independent morphological abnormalities.

Major abnormalities were present in 26.8% of patients and in 15.5% of controls (p < 0.001); prevalence of minor anomalies was 65.1% and 56.2%, respectively (p < 0.001). Cases were also significantly more likely to have combinations of morphological abnormalities.

Fourteen abnormalities were independently and significantly associated with childhood cancer. Among them, blepharophimosis, asymmetric lower limbs, Sydney crease, broad foot, and port-wine stain were at least 9-fold more common in the cancer patients.

Pattern analysis revealed an established tumor predisposition syndrome in 42 patients (3.9%), which compares with a prevalence of < 1% in the general Dutch population. In addition, two previously unidentified patterns of co-occurring morphological abnormalities were identified.

There were 13 patients with at least two abnormalities in the cluster of blepharophimosis, increased angulation of the spine, patchy skin hypopigmentation, and multiple café-au-lait spots. Twenty-one patients were affected by the cluster of asymmetric lower limbs, tall stature, midface hypoplasia, ptosis, and pectus carinatum or excavatum.

“The detection of patterns of morphological abnormalities allows identification of new tumor predisposition syndromes,” Dr. Merks’ team concludes.