The DICER1 gene is located in the 14q32 region within the long arm of chromosome 14. It encodes for a protein responsible for regulating numerous other genes during development. When DICER1 is lost due to mutation or deletion, this regulation is disrupted, resulting in elevated cancer probability. Because of this, loss of DICER1 results in a hereditary cancer predisposition syndrome known as DICER1 syndrome.
Most cases of DICER1 syndrome result from mutations in the DICER1 gene, and not complete deletions.
To explore the difference between DICER1 mutation and deletion cases, the article describes three patients with 14q32 deletions. Two of the three patients described above have had DICER1-related tumors, which included multinodular goiter, papillary carcinoma, Sertoli–Leydig cell tumor, and Wilms’ tumor. The patient without the DICER1-related tumor was much younger than the other two patients. Many of the DICER1-related tumors develop later in life, suggesting that this patient may eventually develop tumors at a later age. The patients with 14q32 deletions involving DICER1 gene may have similar risks of developing tumors as DICER1 mutation carriers. Since many of these tumors develop later in life, it is important to maintain routine precautionary screenings.
Additional symptoms in patients with 14q32 deletions include facial abnormalities and autistic behavior. However, additional clinical data from more patients is required to establish the full phenotype of this deletion. The article concludes by suggesting that patients with 14q32 deletions with loss of DICER1 should be aware of the implications of DICER1 syndrome, and the potential for tumor development.
Herriges, et al. “Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors”. European Journal of Medical Genetics. 2018, in press.
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