Christiansen Debes H, Desta Frehiwet, Andersen Mette K, Pedersen-Bjergaard Jens
Cytogenetic Laboratory, Section of Hematology/Oncology, Department of Clinical Genetics, The Juliane Marie Center, Copenhagen DK 2100 Ø, Denmark.
Genes Chromosomes Cancer. 2007 Jun;46(6):517-21. doi: 10.1002/gcc.20426.
Activating mutations of the PTPN11 gene encoding the SHP2 tyrosine phosphatase is the most common genetic abnormality in juvenile myelomonocytic leukemia and is sporadically observed in myelodysplasia (MDS) and acute myeloid leukemia (AML). An unselected series of 140 patients with therapy-related MDS or AML were investigated for mutations of PTPN11 in Exons 3, 4, 8, and 13. Four cases had mutations of the gene; three of these had deletions or loss of chromosome arm 7q. Two cases had rare balanced translocations to chromosome band 21q22 with rearrangement of the RUNX1 gene and the other two patients had rare balanced translocations to chromosome band 3q26 with rearrangement of the EVI1 gene. The findings support cooperation between so called Class I and Class II mutations in leukemogenesis.
编码SHP2酪氨酸磷酸酶的PTPN11基因的激活突变是青少年骨髓单核细胞白血病中最常见的基因异常，在骨髓增生异常综合征（MDS）和急性髓系白血病（AML）中也偶有发现。对140例与治疗相关的MDS或AML患者进行非选择性研究，检测其PTPN11基因第3、4、8和13外显子的突变情况。4例患者存在该基因突变；其中3例有7号染色体长臂缺失或丢失。2例患者有罕见的与21q22染色体带的平衡易位，伴有RUNX1基因重排，另外2例患者有罕见的与3q26染色体带的平衡易位，伴有EVI1基因重排。这些发现支持了所谓I类和II类突变在白血病发生过程中的协同作用。
