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

Abstract

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.

Keywords: Myelodysplatic syndrome; Prognosis; Telomerase gene mutation; Telomere overhang.