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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

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, 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.

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

 
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Alternative site location: http://www.medic.usm.my/publication/mjms/

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