Deletions within chromosome 14q32 – a region within the long arm of chromosome 14 – are rare. Because of this, research on this deletion is scarce. Symptoms of 14q32 deletions include intellectual disability, developmental delay, dysmorphic features, microcephaly (an abnormally small and underdeveloped head), and hypotonia (low muscle tone). Severity of these symptoms depends on the size of the deletion and which genes within this region are affected.
One of the genes in 14q32 area is DICER1 located specifically in 14q32.13. Mutations in DICER1 are known to cause DICER1 syndrome, and patients with these mutations are at risk of developing rare tumors at a young age. This article reports on the case of a boy with a 5.82Mb deletion within the 14q32 region. His deletion affected 57 genes, including DICER1. The boy had many of the symptoms described above, including intellectual disability. He also displayed DICER1 syndrome with development of multiple malignant tumors before the age of five years. He had a pediatric cystic nephroma, spindle cell sarcoma, ciliary body medulloepithelioma and a lung cyst characteristic of pleuropulmonary blastoma. There is also no evidence that the other genes deleted (besides DICER1) are contributing to the symptoms of DICER1 syndrome. However, more research needs to be conducted on these additional genes, as they could be contributing to the worsening of the patient’s condition.
This newly published article shows the significance of the loss of DICER1 gene in patients with 14q32 deletion. As a precaution, patients with 14q32 deletions involving DICER1 gene need to be made aware of the possibility of a DICER1 syndrome, in case they need to take preventative measures for tumor diagnosis and treatment.
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de Kock, et al. “Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion”. Genes Chromosomes Cancer. 2018, v. 57, 223-230.