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Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.

Sarah K MacklinStephanie L HinesKaisorn L ChaichanaAngela M DonaldsonStephen L KoQihui ZhaiNiloy Jewel SamadderDouglas L Riegert-Johnson
Published in: BMC medical genetics (2020)
This is the first case reported on a patient with a pathogenic, germline AXIN2 variant and an olfactory neuroblastoma or a gastric adenoma. We propose that these could be features of the AXIN2 phenotype. The known association between gastric adenomas and familial adenomatous polyposis, the other Wnt/beta-catenin disorder, supports the hypothesis that pathogenic AXIN2 variants increase risk as well. As the odds of a chance co-occurrence of a pathogenic AXIN2 variant and an olfactory neuroblastoma are so rare, it is worth exploring potential causation. We are building a clinical registry to expand understanding of the AXIN2 phenotype and request any clinicians caring for patients with pathogenic AXIN2 variants to contact us.
Keyphrases
  • case report
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