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How does rhabdomyosarcoma start?

Published in Rhabdomyosarcoma Genetics 2 mins read

Rhabdomyosarcoma begins due to genetic changes within cells that are destined to become muscle tissue.

Here's a more detailed breakdown:

  • Genetic Mutations: Rhabdomyosarcoma is fundamentally caused by alterations in the DNA of cells. These mutations disrupt the normal process of cell growth and division, leading to uncontrolled proliferation and the formation of a tumor.

  • Alveolar Rhabdomyosarcoma and Translocations: A specific subtype, alveolar rhabdomyosarcoma, often arises from a translocation. This is a chromosomal abnormality where pieces of two different chromosomes switch places.

    • The Swap: This swapping creates a new, abnormal gene that drives the cancer's development.
    • Detection: These abnormal genes can be identified through DNA testing, aiding in diagnosis.
  • Other Genetic Factors: While translocations are common in alveolar rhabdomyosarcoma, other genetic mutations can also contribute to the development of rhabdomyosarcoma, particularly in other subtypes like embryonal rhabdomyosarcoma. These mutations can affect genes involved in cell growth, differentiation, and apoptosis (programmed cell death).

  • Uncontrolled Cell Growth: Ultimately, these genetic changes lead to cells that no longer respond to normal growth controls and continue to multiply, forming a tumor composed of immature muscle cells.

In summary, rhabdomyosarcoma starts with genetic mutations that disrupt normal cell growth and differentiation, leading to the formation of tumors composed of immature muscle cells. A common type, alveolar rhabdomyosarcoma, is often associated with specific chromosomal translocations.

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