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Is Rhabdomyosarcoma a Genetic Disease?

Published in Rhabdomyosarcoma Genetics 2 mins read

Rhabdomyosarcoma (RMS) is related to genetic changes, specifically in the tumor cells themselves, but it's generally not considered an inherited genetic disease.

Here's a breakdown:

  • Genetic Changes in RMS: RMS arises from genetic mutations. These mutations occur during a person's lifetime and are present in the tumor cells. A specific example is alveolar rhabdomyosarcoma, which often involves a translocation between chromosomes. This translocation results in an abnormal gene that can be identified through DNA testing of the tumor tissue.

  • Not Typically Inherited: Most cases of RMS are not caused by inherited genetic mutations. This means the gene changes did not come from a parent and are not present in every cell of the child's body. The mutations arose spontaneously in the cells that eventually became cancerous.

  • Role of Genetics: The genetic mutations disrupt normal cell growth and development, leading to the formation of a cancerous tumor. The genetic alterations drive the abnormal behavior of the rhabdomyosarcoma cells.

In summary, while rhabdomyosarcoma involves genetic changes within the tumor cells, it's usually not a disease passed down through families (inherited). The mutations arise spontaneously.

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