Segmental Overgrowth Research News

Research Update – November 2016 by Dr Veronica Kinsle

  • 120 patients with overgrowth and/or vascular anomalies (usually both) have now been genotyped in Cambridge.  We have positive results for about 45% of them.  The others are still unknown and we are taking those samples forward as a research project here, looking for other genes.
  • 90 of the 120 have been extensively phenotyped (had all data collected about their clinical appearance, their blood tests, their radiology results, histology results, their clinical outcomes such as the occurrence of any complications such as clots or pain or need for surgery), and the other 30 are being done over the next 3 weeks.  We have not yet found strong connections between the genotype and phenotype other than the clear difference for the AKT1 patients, however this is still a useful finding in itself.
  • The results from this study are being pooled with those from the Cambridge group (Rob Semple), and the Dublin group (Alan Irvine).  We will be submitting for publication within the next few months.  It will be an open access paper so viewable to all.
  • The first 120 samples were processed by my lab at ICH and the Cambridge lab did the genotype on the first 90.  We have now arranged that this will become an NHS test, so from now on the biopsies can be done on the ward and sent straight away to the NHS lab.  This will be paid for by the NHS Dermatology department, or by other departments in GOSH if they order the tests.  This is a great move forward for patient access to these tests. On the basis of this data we should be able to make some recommendations for patient management in the paper.


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