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Cancer Risks

Children with Beckwith-Wiedemann syndrome, another overgrowth syndrome associated with hemihyperplasia, have an increased risk for certain types of liver cancer (hepatoblastoma) and kidney cancer (Wilms tumor).  While M-CM is an overgrowth condition, it is currently unclear if there is truly an increased risk of these cancers.  In published reports, there have been two cases of individuals with M-CM who were later found to have a Wilms tumor.  There have been no reported cases of hepatoblastoma.

The gene mutation that is now thought to cause M-CM, PIK3CA, is found mutated in cancer.  Additionally, PIK3CA has recently been implicated in CLOVES syndrome, where a Wilms tumor risk has been more clearly demonstrated.

Researchers have recently made the recommendation to screen for Wilms tumor following the guidelines for Beckwith-Wiedemann syndrome: renal ultrasounds every 3 months to age 8 years.  The AFP blood test indicated for Beckwith-Wiedemann syndrome to detect hepatoblastoma (liver cancer) is not recommended for M-CM patients at this time.

The medical literature for M-CM reports one case of leukemia and two of meningiomas (brain tumors).