Table 8.

Recommended Surveillance for Individuals with PIK3CA-Related Overgrowth Spectrum

System/ConcernEvaluationFrequency
Constitutional
(overgrowth &
generalized
growth
restriction) 		Measurement of growth parameters, incl head circumference, length of arms, hands, legs, 1 & feet 2At each visit
  • Ultrasound or MRI follow up in those w/truncal overgrowth 2
  • Radiographs of limbs in those w/overgrowth of a limb or portion of a limb
  • Spinal MRI in those w/scoliosis or deformities that affect the spine
As clinically indicated
Neurologic Serial head MRI imagingDepending on severity of findings on initial assessment & degree of brain maturation 3
  • Monitor those w/seizures as clinically indicated.
  • Assess for new manifestations incl seizures, changes in tone, & other signs/symptoms of Chiari malformation. 4, 5
At each visit
Development Monitor developmental progress & educational needs.
Psychiatric/
Behavioral 		Behavioral assessment for anxiety, attention, & aggressive or self-injurious behaviorAt each visit in children, adolescents, & adults
Musculoskeletal
  • Physical medicine, OT/PT assessment of mobility, self-help skills
  • Clinical assessment for scoliosis
At each visit
Gastrointestinal Abdominal palpation for organomegaly & abdominal masses
Vascular &
lymphatic
malformations 		Clinical assessment & monitoring, ideally by a vascular anomalies team 6As clinically indicated
Genitourinary Consideration of renal ultrasoundEvery 3 mos until age 8 yrs 7
Hematologic Hematology consultation w/recommendations for assessment for thrombosis & coagulopathy riskAfter any surgical intervention, esp in those w/CLOVES phenotype &/or vascular malformations
Endocrinologic Blood glucose monitoring; in those w/proven hypoglycemia, eval of the GH axis & HPA axis is indicated.As clinically indicated for those w/persistent hypoglycemia, particularly those who require ongoing treatment for hypoglycemia
Family/
Community 		Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.At each visit

GH = growth hormone; HPA = hypothalamic-pituitary-adrenal; OT = occupational therapy; PT = physical therapy

1.

Including leg length discrepancy

2.

If rapid growth of a specific body area is identified, consider targeted follow up, which may include other types of monitoring techniques, such as volumetric studies and angiography [Douzgou et al 2022].

3.

For those with CNS overgrowth or dysplasia: brain MRI every six months until age two years and then annually until age eight years to monitor specifically for progressive hydrocephalus and Chiari malformation [Douzgou et al 2022]

4.

Infants may have irritability, excessive drooling, difficulty swallowing, or breathing problems, especially central apnea.

5.

Children may have neck pain or headache, motor weakness, sensory changes, vision problems, swallowing difficulties, or behavioral changes.

6.

Team may include specialists in dermatology, interventional radiology, and hematology/oncology.

7.

Tumor screening for Wilms tumor is controversial, given the studies that suggest a frequency of Wilms tumor of between 1.4% and 3.3%. In the US, tumor screening is often undertaken if the tumor risk is 3% or greater. Further longitudinal studies are needed to evaluate the need for Wilms tumor screening in individuals with PROS.

From: PIK3CA-Related Overgrowth Spectrum

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