Such body abnormalities as curvature of the spine and asymmetric lower limbs are more prevalent among children with cancer, compared to children without cancer. This suggests that a defective gene which is responsible for the abnormality may also have a role to play in cancer development, says an article in the Journal of the American Medical Association (JAMA).

Some genetic syndromes may be linked to a raised risk for tumor and cancer development in children, the authors explain. Articles have indicated and shown that some developmental genes which are involved in body plan formation during embryogenesis are also involved in cancer development.

Johannes H. M. Merks, M.D., Ph.D., Emma Children’s Hospital, Academic Medical Center, Amsterdam, the Netherlands, and team carried out a study to assess the prevalence of body structure (morphological) abnormalities among 1,073 people – all of them had undergone a physical examination for morphological abnormalities, such as limb lengths, broad hands or feet, curvature of the spine, and prominent ears. 898 of them were long-term survivors of childhood cancer, while 175 were newly diagnosed pediatric patients with cancer. The study was carried out between January 2000 – March 2003. There was also a control group of 1,007 children, they were also examined. The average ages of patients and controls were 21.2 and 10.4 years, respectively.

They found that the prevalence of major abnormalities and minor anomalies were substantially higher among the pediatric cancer group – 268 per 1,000 in the cancer group, compared to 155 per 1,000 in the control group. 26.8% from the cancer group had one or more major abnormalities, compared to 15.5% in the control group. 5.1% from the cancer group had two or more abnormalities, compared to 1.6% in the control group. 0.9% from the cancer group had three or more abnormalities, compared to none in the control group.

65.1% from the cancer group had one or more minor anomalies compared to 56.2% in the control group. 32.8% from the cancer group had two or more minor anomalies compared to 22.1% in the control group, 15.2% from the cancer group had three or more minor anomalies compared to 8.3% in the controls.

An established clinical genetic syndrome was diagnosed in 42 (3.9%) patients. Analysis showed 14 age-independent morphological abnormalities that were independently and significantly linked to childhood cancer. For two of these (blepharophimosis [eyelid abnormalities] and asymmetric lower limbs), the researchers identified statistically significant patterns of co-occurring morphological abnormalities suggestive of new tumor predisposition syndromes. 34 patients fit one of the two tumor predisposition patterns.

The researchers wrote “We conclude that the high incidence of single and combined morphological abnormalities in pediatric patients with cancer indicates that constitutional genetic defects play a more important role in pediatric oncogenesis than is currently estimated. Furthermore, the detection of patterns of morphological abnormalities allows identification of new tumor predisposition syndromes.”

“Prevalence and Patterns of Morphological Abnormalities in Patients With Childhood Cancer”
Johannes H. M. Merks, MD, PhD; Heval M. O-zgen, MD; Jan Koster, PhD; Aeilko H. Zwinderman, PhD; Huib N. Caron, MD, PhD; Raoul C. M. Hennekam, MD, PhD
JAMA. 2008;299(1):61-69.
Click here to view Abstract online

Written by – Christian Nordqvist