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Mutations of the PTPN11 gene in therapy‐related MDS and AML with rare balanced chromosome translocations
Author(s) -
Christiansen Debes H.,
Desta Frehiwet,
Andersen Mette K.,
PedersenBjergaard Jens
Publication year - 2007
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20426
Subject(s) - ptpn11 , chromosomal translocation , cancer research , biology , genetics , exon , myeloid leukemia , chromosome 7 (human) , mutation , gene , juvenile myelomonocytic leukemia , chromosome , kras , stem cell , haematopoiesis
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. © 2007 Wiley‐Liss, Inc.