April 2017 Vol. 5 No.4

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Case Report

Co-occurrence of Oncogenic Driver Mutations (SF3B1, RUNX1 and CSF3R) with Distinct Prognostic Implication in a Lower Risk Myelodysplastic Syndrome Patient

Aisha Jamal¹, Nida Anwar², Saba Shahid³, Shariq Ahmed³, Tahir Shamsi^1*

¹Department of Clinical Haematology and Bone Marrow Transplantation, National Institute of Blood Disease and Bone Marrow Transplantation, ST 2/A block 17 Gulshan-e-Iqbal ,KDA Scheme 24 Karachi, Pakistan
²Department of Haematology, National Institute of Blood Disease and Bone Marrow Transplantation, ST 2/A block 17 Gulshan-e-Iqbal ,KDA Scheme 24 Karachi, Pakistan
³Department of Genomics, National Institute of Blood Disease and Bone Marrow Transplantation, ST 2/A block 17 Gulshan-e-Iqbal, KDA Scheme 24 Karachi, Pakistan

*Corresponding Author’s E-mail: t.shamsi.62@gmail.com
Tel.: 92345-2383956

Accepted April 02, 2017

Abstract

Recurrent cytogenetic abnormalities are demonstrated in approximately fifty percent cases of Myelodysplastic syndromes (MDS) found as result of genomic instability accredited to the presence of oncogenic genetic mutations. Over the years the molecular basis of MDS has remained elusive but major breakthroughs have been made recently in elucidating the molecular pathogenesis of this entity by employing the sophisticated technology of next generation sequencing. We are reporting here a circumstantial account of a case of Myelodysplastic syndrome with ringed sideroblasts and multilineage dysplasia (MDS-RS-MLD) with normal karyotype and co-occurrence of oncogenic mutations involving SF3B1, CSF3R and RUNX1, deciphered through next generation sequencing. The reports pertinent to the association of SF3B1 mutation to other driver mutations are relatively sparse. It most commonly exists in association with DNMT3A and the two together play an important role in evolution of MDS. RUNX1 mutations are the second common mutations to exist in association with SF3B1. This case points not only towards the diagnostic importance of these somatic driver mutations but also demands for a more refined prognostic model with the integration of somatic driver mutations so that better prognostic groups can be assigned and better risk adapted treatment can be offered to individual MDS patients.

Key words: Myelodysplastic syndrome, Next Generation Sequencing, SF3B1, RUNX1, CSF3R mutation