About Bioline  All Journals  Testimonials  Membership  News  Donations

Malaysian Journal of Medical Sciences
School of Medical Sciences, Universiti Sains Malaysia
ISSN: 1394-195X
Vol. 22, No. 5, 2015, pp. 93-97
Bioline Code: mj15063
Full paper language: English
Document type: Case Report
Document available free of charge

Malaysian Journal of Medical Sciences, Vol. 22, No. 5, 2015, pp. 93-97

 en 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)
Raveendran, Sureshkumar; Sarojam, Santhi; Vijay, Sangeetha; Prem, Shruti & Sreedharan, Hariharan


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, including FLT3, CEBPA, NPM1, RAS, c-KIT, IDH1 and IDH2. Cytogenetic and mutation analyses revealed a novel translocation, t(X;2)(q28;p22), with both NPM1 and IDH1 mutations. 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.

acute myeloid leukaemia; isocitrate dehydrogenase 1; nucleophosmin 1; chromosomal translocation; spectral karyotyping

© Copyright 2015 - Malaysian Journal of Medical Sciences
Alternative site location:

Home Faq Resources Email Bioline
© Bioline International, 1989 - 2018, Site last up-dated on 09-Jul-2018.
Site created and maintained by the Reference Center on Environmental Information, CRIA, Brazil
System hosted by the Internet Data Center of Rede Nacional de Ensino e Pesquisa, RNP, Brazil