Cancer Risks- 2013 Orlando FL Costello Conference

These are my personal notes… please ask me for Microsoft Word Doc personally if

Cancer Risks by Dr. Burkitt Wright & Dr. Bronwyn Kerr

There is a published article about this one (I have the file if anyone wants to message me personally I can send it otherwise It may be on this website: http://costellokids.com/all-publications )

RAS-MAPK controls multiple processes

1 in 3 people in the general population get cancers

HRAS, NRAS, KRAS (most common) are found in 30% of human cancers

G12V commonest

G12S less commonly

people with Costello syndrome can get benign tumors:

  • Nasal papilloma
  • Stomach polyps
  • Breast tumors
  • Parathyroid adenoma
  • Choroid plexus
  • Ganglio neuroblastoma

They can also get malignant tumors:

  • Rhabdomyosarcoma (most common) which is a rare tumor of skeletal muscle- 4-5 people per million of general population less than 19yrs old each year
  • Rhabdo embryonal greater than 20 yrs old
  • Bladder cancer has been found in 4 Costellos in their teenage years
  • Malignant neuroblastoma has been found in 4 Costellos (if you add Zane this makes atleast 5 then since the study was done)
    • Costellos have a 17% increased risk of rhabdomyosarcoma

G12S, G12A: rhabdo, neuroblastoma, bladder cancer has been reported

G12C rhabdo has been reported

Mortality mainly due to multi organ failure in 1st year of a person with Costello syndrome’s life, not cancer

Suggested: screening for neuroblastoma (there have been neuroblastoma false positives), ultrasound every 3-6months until 6-8 years old

Annual urinalysis after 10 years old

Prompt investigation of unexplained symptoms

About a 15% risk in childhood

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