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Loss of sex chromosome in acute myeloid leukemia Bakshi Sonal R, Kakadia Purvi M, Brahmbhatt Manisha M, Trivedi Pina J, Rawal Shwetal M, Bhatt Samarth S, Parikh Bharat J, Patel Kirti M, Shukla Shilin N , Shah Pankaj M Abstract Loss of sex chromosomes has been reported in normal and malignant marrows and its frequency increases with age in both situations. It is not clear whether the sex chromosome loss is a critical mutational event for neoplastic transformation or a genetic change related to ageing. The present study was undertaken to analyze incidence of loss of sex chromosomes in leukemia patients. Karyotypic analysis in bone marrow cells was carried out in total 270 AML patients registered at G.C.& R.I. during January 2000 to October 2003. Out of 270, 22 patients had loss of sex chromosome in addition to other disease specific chromosomal abnormalities. Out of 22 patients, 50% (11 of 22) were of the pediatric age (up to 14 years), and only 10% (3 of 22) patients were above the age of 50 years, maximum age being 65 years. On follow-up, only in patients with pathological remission normal 46XX/XY karyotypes were seen. Whereas in patients with persistent leukemic activity, clones with loss of sex chromosome were observed. The results indicate that sex chromosome loss in these cases may be equivalent of a clonal cytogenetic process rather than related to ageing process. Keywords Acute myeloid leukemia, karyotyping, unstimulated culture, loss of sex Chromosome

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