Heterogenous abnormality polymorphism of gene PDGFRB in myeloid neoplasms and its clinical characteristics / 中国实验血液学杂志

ABSTRACT

Myeloid neoplasms with eosinophilia and abnormalities of PDGFRB gene are a new kind of myeloid disorders in the revised 2008 WHO classification. Out of detected 2000 cases of myeloid cell abnormalities in our hospital, 12 cases of myeloid neoplasms with eosinophilia and abnormalities of PDGFRB were found. This study was purposed to summarize and analyze the clinical and laboratorial characteristics of the 12 cases with PDGFRB gene abnormalities. The results indicated that among 12 cases of myeloid neoplasms with PDGFRB abnormalities, 5 cases with TEL/PDGFRB fusion gene, 2 cases with HEPI/PDGFRB, 1 case with PDGFRB mutation, 1 case with RABAPTIN-5/PDGFRB, 1 case with GIT2/PDGFRB, 1 case with TP53/PDGFRB, 1 case with WDR43/PDGFRB fusion gene were detected, showing the polymorphism of PDGFRB gene abnormalities. Among this kind of myeloid neoplasm patients, almost all patients manifested monocytosis and eosinophilia in different degree, the thrombocytosis mainly was observed in atypical myeloid neoplasms, acute leukemia, chromic myelo-monocytic leukemia patients. The treatment with imatinib mesylate for this kind of patients was effective in some cases. It is concluded that the myeloid neoplasms with PDGFRB gene abnormalities are a kind of heterogenetic myeloid neoplasms, their gene abnormal types and clinical manifestations show polymorphism too. The monocytosis and eosinophilia appear in this kind myeloid neoplasms which may be treated with tyrosine kinase inhibitors such as imatinib mesylate.