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Columbus Children's Hospital, Cincinnati, U.S.

B-precursor childhood acute lymphoblastic leukemia linked to perforin polymorphism A91V

Published in Genetics and Environmental Health Week, November 1st, 2006

B-precursor childhood acute lymphoblastic leukemia (ALL) could be linked to perforin (PRF1) polymorphism A91V but requires further study.

"Perforin plays a key role in the cytotoxicity of natural killer and cytotoxic T cells. Genetic mutations in PRF1 give rise to approximately 30% cases of familial hemophagocytic lymphohistiocytosis," scientists in the United States reported.

"A frequent polymorphism, A91V (C to T transition at position 272), may impair processing of perforin protein to the active form, and has been suggested to increase susceptibility to childhood ALL," explained P.A. Mehta and colleagues, Columbus Children's Hospital. "To...

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