Greater expression of the long noncoding RNA KIAA0125 (also known as FAM30A) may be associated with higher-risk myelodysplastic syndrome (MDS) and poorer overall survival (OS), according to research published in the British Journal of Haematology.

Patients with MDS are at an increased risk for disease progression to acute myeloid leukemia (AML). Disease prognosis is assessed by a scoring system, one of the most common being the International Prognostic Scoring System (IPSS). Some patients live years without symptoms, but others may progress quickly to AML.

This study looked at expression of the long noncoding RNA KIAA0125 as a potential biomarker to guide treatment for patients with MDS. Long noncoding RNA KIAA0125 is a stemness-related gene, and is 1 of 17 used in the stem cell scoring system for determining AML prognosis. Thus, the authors suspected this gene may play a role in MDS outcomes.

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The authors evaluated bone marrow samples from 176 patients with MDS who were diagnosed at the National Taiwan University Hospital in Taipei, Taiwan. The sample population included 121 men and 55 women (median age, 68.7 years). The median follow-up time was 37.3 months. At the time of reporting, 83 of the patients had died and 38 cases progressed to AML. Patients were classified according to the revised IPSS (IPSS‐R).

Patients with higher KIAA0125 expression had shorter OS (P <.001) and leukemia-free survival (LFS) (P =.011) compared with those who had lower gene expression. In a functional analysis, the authors found that stemness-related genes, including the HOX family genes, were upregulated in patients with higher KIAA0125 expression. HOX family genes are associated with poorer prognosis in patients with AML and with AML transformation in patients with MDS. 

Even patients with lower risk IPSS-R scores but higher KIAA0125 expression had shorter survival and higher AML transformation compared with those with lower expression.

The authors concluded that KIAA0125 expression is an independent prognostic factor for MDS. High expression may serve as a way to identify patients with poorer prognosis, particularly those classified with low or intermediate risk disease, and these patients may be selected for more aggressive treatment.


Hung SY, Lin CC, Hsu CL, et al. The expression levels of long non-coding RNA KIAA0125 are associated with distinct clinical and biological features in myelodysplastic syndromes. Br J Haematol. Published online November 29, 2020. doi:10.1111/bjh.17231