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