p16 gene homozygous deletions in acute lymphoblastic leukemia

摘要: The p16 protein is a cyclin inhibitor encoded by gene located in 9p21, which may have antioncogenic properties, and inactivated homozygous deletion or, less often, point mutation several types of solid tumors often associated to cytogenetic evidence 9p21 deletion. We looked for the acute lymphoblastic leukemia (ALL), where or rearrangement are also nonrandom findings. Other hematologic malignancies including myeloid (AML), myelodysplastic syndromes (MDS), chronic lymphocytic (CLL), myeloma were studied. Homozygous was seen 9 63 (14%) ALL analyzed, 6/39 precursor B-ALL, 3/12 T-ALL, 0/12 Burkitt's ALL. Three 7 with 9p (including 3 5 patients this clearly monosomy) had compared 55 normal (the last patient not successfully karyotyped). Single stranded conformation polymorphism analysis exons 1 2 performed 88 cases ALL, analyzed Southern blot. Twenty-six rearrangement, monosomy at least 12 cases. A missense mutation, codon 49 (nucleotide 164), only patients. No no AML, MDS, CLL, myeloma. interferon alpha genes (situated close 9p21) deletion, none without Our findings suggest that about 15% cases, restricted cytogenetically detectable could pathogenetic role malignancy. On other hand, mutations very rare we found deletions