Updates in the PIK3KCA-Related Overgrowth Spectrum (PROS) Disorders: Updates in Diagnosis, Targeted Therapy, and Treatment
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Which of the following best describes PROS?
A somatic PIK3CA mutation must be documented to confirm PROS
An umbrella term of heterogenous conditions that can only be diagnosed with germline testing of a PIK3CA mutation
It is a progressive disease that clinically manifests itself in the first year of life
A and C
All of the above
The burden of PIK3KCA-Overgrowth Related Spectrum (PROS) is best described by:
A heterogeneous group of disorders that may cause vascular malformations, blood clotting disorder, limb asymmetry, and pain
Delayed diagnosis accompanied by multiple and repetitive, non-curative surgical interventions
Being highly variable with the lipomatous overgrowth associated with vascular malformations found in the CLOVES syndrome as being the most benign
A and B
All of the above
A 3.5y old child is brought for a consult after she was referred by her pediatric geneticist who documented a somatic PIK3CA mutation via NGS testing. She has difficulty ambulating (macrodactyly of both feet and syndactyly of the left 2nd and 3rd toes) and has large birth marks on the trunk. The mother is searching for a diagnosis and potential interventions. Potential interventions are?
Sirolimus
Alpelisib
Observation/clinical monitoring
Enrollment in a clinical trial
Parents decide to start alpelisib treatment. What are adverse reactions you should discuss?
Hyperglycemia
Increased risk of infection due to immune suppression
Diarrhea
A and C
All of the above
Treatment options for PROS:
Alpelisib is FDA-approved to treat PIK3CA-overgrowth spectrum in 2 years and older
Sirolimus has been used to treat vascular anomalies, venous and lymphatic malformations for years but has not obtained FDA-approval
Have adverse effects including immunosuppression for sirolimus and hyperglycemia for alpelisib
A and B
All of the above
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