Telomerase gene screening and telomere overhang detection in Chinese patients with myelodysplastic syndrome

Background Telomerase disfunction leads to short telometric overhangs, potentially resulting in chromosome instability. Aims To better understand the role of overhang length in the progression of myelodysplastic syndrome (MDS). Methods Bone marrow samples of 62 Chinese MDS patients were screened for TERT and TERC gene variants. Overhangs length was investigated. Results No mutation was identified. MDS patients had shorter overhangs compared to controls. Abnormal karyotype ones had shorter overhang compared to normal. Telomeric overhang length decreased as IPSS/WPSS value increased. Conclusions Overhang changes in accordance with IPSS/WPSS in MDS. Short overhang may be an independent factor for poor prognosis in MDS.