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High hypodiploid karyotype showing t(9;22)(q34;q11.2) along with monosomy 7 in adult ALL

High hypodiploid karyotype showing t(9;22)(q34;q11.2) along with monosomy 7 in adult ALL
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Author: Mr Anil Kumar Yadav, Dr Manorama Bhargava, India
Category: Myeloid Neoplasms and acute leukemia (WHO 2016) > Precursor Lymphoid Neoplasms > B-lymphoblastic leukemia/lymphoma > B-Lymphoblastic Leukemia/Lymphoma, with recurrent genetic abnormalities > B-Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34;q11.2); BCR-ABL1
Published Date: 08/07/2018

We present here a case of 30 years old female with ALL. Her peripheral blood showed Hb: 7.9 g/dl; TLC: 41,870/cu mm, Platelets: 1,24,000/cumm and with presence of ~80.0% blasts. Peripheral blood and bone marrow aspirate features are consistent with Acute Leukaemia, morphologically acute lymphoblastic leukaemia. The bone marrow biopsy is also consistent with acute leukaemia. Immunophenotyping is consistent with CALLA positive B cell precursor- Acute Lymphoblastic Leukaemia.

Cytogenetic analysis of unstimulated bone marrow aspirate culture shows the presence of a high hypo-diploid clone (modal number 45) with loss of chromosome 7 and characterized by Philadelphia Chromosome which is formed by balanced reciprocal translocation between the long arms of chromosome 9 and chromosome 22 in all the analysed 20 metaphases.

Hypodiploidy with monosomy 7 and t(9;22) are all associated with poor prognosis in precursor B cell acute lymphoblastic leukaemia.

Karyotype- 45,XY,-7,t(9;22)(q34;q11.2)[20]

 

The Bone marrow aspirate culture [time: 17 h, overnight with and without colcemid: with 5% CO2] showed metaphases. The metaphase is stained and banded by GTG method. The metaphase cells are screened at x10 then focused at ×100 oil immersion and then captured at Cytogenetic workstation, Carl Zeiss Axios cope Z2 and processed using IKAROS software. Once the capturing is over, metaphase images are processed and analysed, and chromosomes are arranged as per length, centromere position and banding pattern.  Then it is reported as per ISCN 2016 nomenclature.