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Deletion 7q in adult AML

Deletion 7q in adult AML
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Author: Mr Anil Kumar Yadav, Dr Manorama Bhargava, India
Category: Myeloid Neoplasms and acute leukemia (WHO 2016)
Published Date: 08/07/2018

We present here a case of 47 years old male with AML. His peripheral blood showed Hb: 8.1 g/dl; TLC: 3,580/cu mm, Platelets: 37,000/cumm and with presence of ~12% blasts. Peripheral blood and bone marrow aspirate (MPO positive with 21% blasts) features are consistent with Acute Leukaemia, morphologically acute myeloid leukaemia. The bone marrow biopsy is also consistent with acute leukemia. Immunophenotyping is consistent with Acute Myeloid Leukemia with abnormal antigenic maturation pattern on maturing granulocytic precursors, suggestive of dysmyelopoiesis.

Cytogenetic analysis of unstimulated bone marrow aspirate culture shows neoplastic clone characterized by interstitial deletion in the long arm of chromosome 7 i.e. del(7q) in 17 of the 20 metaphases analysed. Deletion 7q is present in 1% of karyotypically aberrant AML as the sole abnormality and is associated with poor prognosis in acute myeloid leukaemia (NCCN, 2018).

Karyotype- 46,XY,del(7)(q22q32)[17]/46,XY[3]

 

Karyogram obtained from cultured bone marrow aspirate cells in culture medium [time: 17 hour, overnight with and without colcemid: with 5% CO2] under aseptic condition. Staining and banding method- by GTG method. The metaphase cells are screened at x10 then focused at ×100 oil immersion and then captured at Cytogenetic workstation, Carl Zeiss Axioscope 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.