People with DICER1 syndrome are more likely to have some types of rare tumors. This is due to a defect in a gene.
Not everyone with the abnormality in the gene will develop a tumor and/or cancer.
A tumor is an accumulation of cells in the body. A tumor can be malignant or benign.
Children and adults with DICER1 syndrome are more likely to develop a tumor. The tumor is usually benign. But sometimes not and someone gets cancer. This is especially true for children and young people.
People with DICER1 syndrome can develop different types of tumors. Usually in children it concerns:
- tumors in the lung (pleuropulmonary blastoma and lung cysts).
They may then breathe quickly (even when not exerting themselves), have chest pains and pain with breathing, and have a cough that does not go away. - a tumor in the kidney (cystic nephroma).
Then they may have complaints such as a big belly, pain in the abdomen or in their side, or blood in their urine.
In teens and adults, it often involves:
- tumors of the ovaries (sex cord stromal tumors) in girls and women.
They may then have complaints such as a big belly and/or abdominal pain, pimples, a lower voice or more hair on their body. Or early puberty (before the age of 8), bleeding while not having a period, having irregular or no longer periods. - a tumor of the thyroid gland (goiter and thyroid cancer).
Then someone may have complaints such as lumps in the neck that you can feel or see, lymph nodes in the neck that are thick, a hoarse or hoarse voice and / or cough that does not go away, difficulty swallowing or pain in the neck.
People with the abnormality in the gene may also have other rare types of tumors.
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