International Journal of
Medicine and Medical Sciences

  • Abbreviation: Int. J. Med. Med. Sci.
  • Language: English
  • ISSN: 2006-9723
  • DOI: 10.5897/IJMMS
  • Start Year: 2009
  • Published Articles: 531

Full Length Research Paper

Unusual location of BCR/ABL fusion gene in four CML patients with masked Philadelphia chromosome

M. Brahmbhatt Manisha
  • M. Brahmbhatt Manisha
  • Cell Biology Division, Division of Research, the Gujarat Cancer Society, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India.
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S. Patel Prabhudas
  • S. Patel Prabhudas
  • Biochemistry Research Division, NCH Campus, Asarwa, Ahmedabad-380016, India.
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J. Trivedi Pina
  • J. Trivedi Pina
  • Cell Biology Division, Division of Research, the Gujarat Cancer Society, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India.
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P. Patel Beena
  • P. Patel Beena
  • Cell Biology Division, Division of Research, the Gujarat Cancer Society, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India.
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B. Gajjar Sarju
  • B. Gajjar Sarju
  • Cell Biology Division, Division of Research, the Gujarat Cancer Society, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India.
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Dalal Esha
  • Dalal Esha
  • Cell Biology Division, Division of Research, the Gujarat Cancer Society, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India.
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M. Patel Dharmesh
  • M. Patel Dharmesh
  • Cell Biology Division, Division of Research, the Gujarat Cancer Society, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India.
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S. Purani Sejal
  • S. Purani Sejal
  • Cell Biology Division, Division of Research, the Gujarat Cancer Society, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India.
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N. Shukla Shilin
  • N. Shukla Shilin
  • Medical Oncology Department, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India.
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M. Shah Pankaj
  • M. Shah Pankaj
  • Medical Oncology Department, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India.
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R. Bakshi Sonal
  • R. Bakshi Sonal
  • Cell Biology Division, Division of Research, the Gujarat Cancer Society, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad-380016, India.
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  •  Accepted: 06 July 2009
  •  Published: 31 March 2010

Abstract

The author describes atypical BCR/ABL fusion patterns among CML patients using FISH technique. The fusion BCR/ABL gene is usually observed at the der(22) chromosome while atypical rearrangements in CML patients are rare. As the relocation of BCR/ABL1 fusion sequence on sites other than 22q11 represents a rare type of variant Ph-translocation, the present study may highlight the hot spots involved in CML pathogenesis and assess their implications in Ph negative BCR/ABL1 positive CML. This study demonstrates the genetic heterogeneity of this subgroup of CML and the efficiency of FISH in detecting variations of the classical t(9;22). As atypical patterns may have clinical prognostic implications establishment of signal patterns may have important diagnostic implications.

Key words: Variant pH translocations, pH chromosome, BCR/ABL, FISH, chronic myeloid leukemia.