• Natl Med J India · May 2020

    Case Reports

    A case of Philadelphia chromosome-positive acute myeloid leukaemia with missense mutation R132c (c.394 c>t) and single nucleotide polymorphism rs11554137(G105G) in isocitrate dehydrogenase 1 gene.

    • Akanksha Agarwal, Mili Jain, Shikha Tewari, Madhumati Goel, and Ashutosh Kumar.
    • Department of Pathology, King George Medical University, Lucknow, Uttar Pradesh, India.
    • Natl Med J India. 2020 May 1; 33 (3): 146-148.

    AbstractAcute myeloid leukaemia (AML) is a heterogeneous disease due to its variable clinical, morphological and genetic features. New chromosomal and molecular abnormalities are being studied to evaluate novel treatment options and prognostic implications. We report a patient with AML who was Philadelphia chromosome-positive along with IDH1R132 mutation and SNP rs11554137(IDH1105GGT). Due to limited reports regarding these aberrations in patients with AML, there is no consensus regarding their prognostic implications. To the best of our knowledge, the presence of Philadelphia chromosome, IDH1R132 and SNP rs11554137 in a single AML patient with good prognosis is a novel finding.

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