Diagnosing PROS (PIK3CA-Related Overgrowth Spectrum) early is important for ongoing assessment and care1,2


Proper diagnosis of PROS can help guide assessment and care by the appropriate specialists. A multidisciplinary health care team is often necessary to manage all affected organs and potential complications.3 There is a potential for misdiagnosis of PROS due to clinical overlap with other overgrowth disorders (eg, Proteus syndrome, PTEN hamartoma tumor syndrome, type II segmental Cowden syndrome, Neurofibromatosis type 1, or Epidermal nevus syndrome).1

The diagnosis of PROS may include multiple methods, such as clinical assessment, imaging, observation of onset timing, and genomic testing. When attempting prenatal diagnosis, sonograms may reveal overgrowths, but amniocentesis cannot always detect PIK3CA mutation.2,4,5


Diagnosing PROS


  1. Keppler-Noreuil KM, Rios JJ, Parker VER, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287-295.
  2. Quinlan-Jones E, Williams D, Bell C, Miller C, Gokhale C, Kilby MD. Prenatal detection of PIK3CA-related overgrowth spectrum in cultured amniocytes using long-range PCR and next-generation sequencing. Pediatr Dev Pathol. 2017;20(1):54-57.
  3. Mirzaa G, Conway R, Graham JM Jr, Dobyns WB. PIK3CA-related segmental overgrowth. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2019.
  4. Emrick LT, Murphy L, Shamshirsaz AA, et al. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes. Am J Med Genet A. 2014;164A(10):2633-2637.
  5. Lalonde E, Ebrahimzadeh J, Rafferty K, et al. Molecular diagnosis of somatic overgrowth conditions: a single-center experience. Mol Genet Genomic Med. 2019;7(3):e536.

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