Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell-Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report.
Valeria CalcaterraLuigi ChiricostaEmanuela MazzonAgnese GugnandoloDaniele AlbertiLuciano MaestriMilena MeroniElettra VestriElvira VerduciDario DililloGianvincenzo ZuccottiGloria PelizzoPublished in: Orphanet journal of rare diseases (2021)
In our MRS patient, we signaled the interactors of RFX6 with other up- and downregulated genes that may be related to severe diabetic condition, multi-organ impairment, and cancer predisposition. Notably, many dysregulated genes may lead to triggering carcinogenesis. The possibility of the patient developing cancer degeneration in heterotopic gastric mucosa and/or additional long-term tumoral sequelae is not excluded. Personalized prevention and treatment strategies should be proposed.