Does a mutation in TTF1/NKX2.1 is associate with familial neuroendocrine cell hyperplasia of infancy?
The nature of the mutation and its segregation with disease support that it is disease-causing. Previously reported NKX2.1 mutations have been associated with "brain-thyroid-lung" syndrome and a spectrum of more severe pulmonary phenotypes. We conclude that genetic mechanisms may cause NEHI and that NKX2.1 mutations may result in, but are not the predominant cause of, this phenotype. We speculate that altered expression of NKX2.1 target genes other than those in the surfactant system may be responsible for the pulmonary pathophysiology of NEHI.
CXCL12 was not associated with survival. Positive CXCR4 expression in gastric carcinoma was significantly associated with poor survival and, therefore, may be a potential biomarker for predicting poor survival.