No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma

摘要: Neuroblastoma occasionally occurs in diseases associated with abnormal neurocrest differentiation, e.g. Hirschsprung disease. Expression studies developing mice suggest that the proto-oncogeneRET plays a role differentiation. In humans expression ofRET is limited to certain tumor types, including neuroblastoma, derive from migrating neural crest cells. Mutations are found These data prompted us investigate and search for gene mutations neuroblastoma. Out of 16 neuroblastoma cell lines analyzed, 9 show clear Northern blot analysis. single-strand conformation polymorphism (SSCP) analysis all exons, no were detected other than neutral polymorphisms. patient family which different neurocrestopathies, disease, had occurred, we also failed detect RET mutations. Possibly, merely reflects differentiation status The absence suggests thatRET does not play crucial tumorigenesis