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A gain of X chromosome as a sole abnormality in an adult ALL patient

A gain of X chromosome as a sole abnormality in an adult ALL 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 report here a 21 years old male patient who was diagnosed as ALL, and his unstimulated bone marrow aspirate culture in RPMI1640 culture medium with FBS(25%) for 17 hours culture time, overnight culture with and without colcemid showed gain of chromosome X in all the analysed metaphases. [karyotype- 47,XY,+X[19]/48,XY,+X,+mar[1] by GTG banding]. Peripheral blood showed Hb 8.1g/dL, platelets 84×109/L, and WBC 4.18x109/L with 57% blasts. Bone marrow aspirate showed features consistent with Acute Leukaemia morphologically lymphoid with 93.5% myeloperoxidase-negative blasts. Immunophenotyping showed Precursor B Acute Lymphoblastic Leukemia, CALLA positive,with aberrant CD13 (dim) and CD33 (moderate) expression. Molecular biology tests are negative for BCR/ABL1 fusion, ETV6/RUNX1 fusion, KMT2A-AF4 fusion, KMT2A-AF9 fusion, TCF3-PBX1 fusion and KMT2A-ENL fusion by Qualitative PCR (Real Time PCR). This patient is alive and well 2 months after the initiation of therapy. +X chromosome is generally considered as an indicator of low risk.