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t(1;9)(p13;p12) as a sole abnormality in a paediatric acute lymphoblastic leukemia patient

t(1;9)(p13;p12) as a sole abnormality in a paediatric acute lymphoblastic leukemia patient
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Author: Mr Anil Kumar Yadav, Dr Manorama Bhargava
Category: Myeloid Neoplasms and acute leukemia (WHO 2016) > Precursor Lymphoid Neoplasms > B-lymphoblastic leukemia/lymphoma > B-Lymphoblastic Leukemia/Lymphoma, not otherwise specified
Published Date: 06/28/2018

We present here a case of 11 month 17 days old female child with ALL. Her peripheral blood showed Hb: 11.1 g/dl; TLC: 57,020/cumm, Platelets: 1,00,000/cumm and and leukocytosis with presence of ~80.0% blasts. BMA showed blasts(~84.6%) which were medium size with scant amount of basophilic cytoplasm, large nuclei with fine chromatin with a few  showing prominent nucleoli. The PB and BMA features were consistent with acute leukaemia, morphologically lymphoid. The blasts in the BMBx on IHC were positive for CD19(Dako, CE-CD 19), Diffuse Positive for CD10 (Dako, 56C6). Immunophenotyping showed CALLA positive B cell precursor- ALL. Leukemia profile for ALL was negative by real time PCR for BCR/ABL1, ETV6/RUNX1, MLL/AF4, MLL/AF9, TCF3/PBX and MLL/ENL fusion. Cytogenetic analysis of unstimulated bone marrow aspirate culture showed- 46,XX,t(1;9)(p?13;p?12)[16]/46,XX[4]. The probable location at chromosome 9p harbours PAX5 gene, which is involved in B-cell differentiation.

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