A novel 11;18 translocation in a case of acute myeloid leukemia with maturation
A 42-year-old male was admitted with complaints of shortness of breath, cough and generalized weakness since 15 days. The abdomen, cardiovascular and central nervous system were unremarkable. The patient was a known diabetic and hypertensive on regular treatment. On examination, the patient was pale. There was no lymphadenopathy or petechia. He was tachypnoeic and had features suggestive of pneumonia.\nComplete blood picture revealed low hemoglobin of 8.3 gm/dl, total leucocyte count of 37.1 × 103/μl and platelet count of 22 × 103/μl. Peripheral smear showed anisocytosis, leukocytosis and prominence of blasts (64%). These were 3-4 times the size of mature lymphocytes with moderate amount of cytoplasm. Few of them showed Auer rods. The nuclei showed 2-3 nucleoli. Platelets were moderately reduced. No dysplasia was noted in the background myeloid series [].\nBone marrow aspirate was particulate with increased cellularity. Blasts accounted for 84% of the marrow nucleated cells with maturing myeloid precursors. Erythroid precursors and megakaryocytes were markedly reduced. Myeloperoxidase (MPO) positivity was seen in 15% blasts []. The cells were negative for PAS and ANAE.\nImmunophenotyping was done on peripheral blood using lyse/wash technique and was acquired on dual-laser four-color FACS Calibur (Becton Dickinson, San Jose, CA, USA). The results were analyzed using the Cell Quest software utilizing both forward scatter/side scatter and CD45/side scatter gating strategies. The gated population of cells showed bright positivity for HLA-DR, moderate positivity for CD34, CD33, dim to moderate positivity for CD117, CD13. The neoplastic cells were negative for CD10, CD19, CD7, CD22, CD5, CD7, CD2, CD5, CD14, CD56 [].\nDirect and 24 h unstimulated cultures of bone marrow were set up in RPMI 1640 medium containing 15% FBS followed by GTG banding. Chromosomal abnormalities were analyzed in 20 metaphases using Olympus B × 41and images captured and karyotyped using Applied Spectral Imaging Ltd Software, Migdal Hatmek, Israel, according to ISCN. Clonal chromosomal abnormality was considered when 2 cells had a gain of a chromosome or a structural abnormality and 3 cells had a loss of chromosome. The karyotype was abnormal with a gain of chromosome 6 and a translocation between the short arm of chromosome 11 and long arm of chromosome 18 between the regions p11.2 and q11.2. The karyotype was 46,XY,+6,t(11;18)(p11.2;q11.2) [].\nThe morphology and immunophenotypic features were consistent with the final diagnosis of acute myeloid leukemia with maturation (AML-M2), however with a new translocation having the karyotype 46,XY,+6,t(11;18)(p11.2;q11.2).