No mutations found byRET mutation scanning in sporadic and hereditary neuroblastoma

Autor: Rein P. Stulp, Robert M.W. Hofstra, N C Cheng, Niels Tommerup, Claus Hansen, Niels Clausen, Rogier Versteeg, Andries Westerveld, T. Stelwagen, Charles H.C.M. Buys, Huib N. Caron
Rok vydání: 1996
Předmět:
Zdroj: Human Genetics. 97:362-364
ISSN: 1432-1203
0340-6717
DOI: 10.1007/bf02185773
Popis: Neuroblastoma occasionally occurs in diseases associated with abnormal neurocrest differentiation, e.g. Hirschsprung disease. Expression studies in developing mice suggest that the proto-oncogene RET plays a role in neurocrest differentiation. In humans expression of RET is limited to certain tumor types, including neuroblastoma, that derive from migrating neural crest cells. Mutations of RET are found associated with Hirschsprung disease. These data prompted us to investigate expression of RET and to search for gene mutations in neuroblastoma. Out of 16 neuroblastoma cell lines analyzed, 9 show clear expression of RET in a Northern blot analysis. In a single strandt conformation polymorphism (SSCP) analysis of all exons, no mutations were detected other than neutral polymorphisms. In a patient with neuroblastoma, from a family in which different neurocrestopathies, including neuroblastoma and Hirschsprung disease, had occurred, we also failed to detect RET mutations. Possibly, expression of RET in neuroblastoma merely reflects the differentiation status of the tumor cells. The absence of mutations suggests that RET does not play a crucial role in the tumorigenesis of neuroblastoma.
Databáze: OpenAIRE
Externí odkaz: