Samra Waheed, Saba Shahid, Jawwad Hasan, Shariq Ahmed, Tahir S Shmasi.
High Risk Myelodyplastic Syndrome with Good Risk Cytogenetics and Somatic Oncogenic Driver Mutation.
Natl J Health Sci Jan ;3(4):149-52.

Recurrent cytogenetic abnormalities are manifested in approximately fifty percent cases of Myelodysplastic Syndromes (MDS) found as result of genomic instability verifying the presence of oncogenic genetic mutations. Over the years the molecular diagnosis of MDS, has emphasized the relevance of the molecular pathogenesis of this entity by utilizing the refined technology of next generation sequencing. We herein report a case of Myelodysplastic Syndrome with Excessive Blast 2(MDS EB 2) with isolated deletion 5q and the presence of oncogenic somatic driver mutation ASXL-1 elucidated through next generation sequencing. The reports pertaining the association of MDS with deletion 5q and ASXL 1 are relatively exiguous. This case report points towards the diagnostic and prognostic significance of somatic driver mutations, even in patients exhibiting good risk cytogenetics. This will assist in offering better risk adapted therapies in Myelodysplastic syndrome patients.

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