Mutation Analysis of Hematopoietic Cell Phosphatase Gene in Acute Leukemia

The hematopoietic cell p hosp hatase ( HCP or SHP21 ) , t he SH2 domain contain protein t yrosine p hosp hatase , is a crucial negative regulator in t he process of hematopoietic cell development , proliferation and receptor2 mediated mitogenic signaling pat hways , and its mutation is responsible for t he over2expansion and inappropriate activation of myelomonocytic population in mot heaten mice. The aim of t he study was to evaluate t he role of t he HCP gene in leukemogenesis. Bone marrow and/ or perip heral blood from 32 acute myeloid leukemia ( AML ) patients , 9 acute lymp hocytic leukemia (ALL) patients , 8 leukemia cell lines and 50 normal controls were analyzed by reverse transcription2 polymerase chain reaction ( R T2PCR) based on single strand conformation polymorp hism ( SSCP) and sequencing. R T2 PCR showed t hat all samples expressed HCP gene , only one missense mutation at codon 225 (AAC to A GC , Asn to Ser) wit hin N2terminal SH2 domain was found in an ALL patient . In addition , four polymorp hic base substitutions were detected in codon 69 , 85 , 86 and 266 , respectively. In conclusion , mutation of HCP gene is an infrequent genetic aberration which may only play a role in pat hogenesis of a small part of leukemia , however , its significance needs to be furt her clarified.