title: A Case Report of Concurrent IDH1 and NPM1 Mutations in a Novel t(X;2)(q28;p22) Translocation in Acute Myeloid Leukaemia without Maturation (AML-M1).
abstract: Acute myeloid leukaemia (AML) is one of the fatal haematological malignancies as a consequence of its genetic heterogeneity. At present, the prediction of the clinical response to treatment for AML is based not only on detection of cytogenetic aberrations but also by analysing certain molecular genetic alterations. There are limited in sights into the contribution, disease progression, treatment outcome, and characterisation with respect to the uncommon chromosomal abnormalities leading to AML. Here, we describe the clinical, morphological, cytogenetic, and mutational findings of a 52-year-old female patient with AML without maturation (AML-M1). Conventional karyotyping and spectral karyotyping (SKY) were done on metaphase chromosomes from bone marrow cells at the time of diagnosis. A mutation analysis was performed on the hotspot regions of various genes, includingFLT3, CEBPA, NPM1, RAS, c-KIT, IDH1andIDH2.Cytogenetic and mutation analyses revealed a novel translocation, t(X;2)(q28;p22), with bothNPM1andIDH1mutations. To the best of our knowledge, the presence of both NPM1 and IDH1 mutations in t(X;2)(q28;p22) is a novel finding in AML.
authors.affiliation: Division of Cancer Research, Regional Cancer Centre, Medical College, Thiruvananthapuram, Kerala 695011, India.
authors.forename: Sureshkumar
authors.initials: S
authors.lastname: Raveendran
authors.affiliation: Division of Cancer Research, Regional Cancer Centre, Medical College, Thiruvananthapuram, Kerala 695011, India.
authors.forename: Santhi
authors.initials: S
authors.lastname: Sarojam
authors.affiliation: Division of Cancer Research, Regional Cancer Centre, Medical College, Thiruvananthapuram, Kerala 695011, India.
authors.forename: Sangeetha
authors.initials: S
authors.lastname: Vijay
authors.affiliation: Division of Medical Oncology, Regional Cancer Centre, Medical College, Thiruvananthapuram, Kerala 695011, India.
authors.forename: Shruti
authors.initials: S
authors.lastname: Prem
authors.affiliation: Division of Cancer Research, Regional Cancer Centre, Medical College, Thiruvananthapuram, Kerala 695011, India.
authors.forename: Hariharan
authors.initials: H
authors.lastname: Sreedharan
keywords: acute myeloid leukaemia; chromosomal translocation; isocitrate dehydrogenase 1; nucleophosmin 1; spectral karyotyping