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La Starza, R., Testoni, N., Lafage-Pochitaloff, M., Ruggeri, D., Ottaviani, E., Perla, G., Martelli, M.F., Marynen, P. and Mecucci, C. (2002) Complex variant Philadelphia translocations involving the short arm of chromosome 6 in chronic myeloid leukemia. Haematologica, 87, 143-147.

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• TITLE: A novel cytogenetic abnormality r(7)(::p11.2->q36.3::) in a Philadelphia-positive chronic myeloid leukemia case

  AUTHORS: Walid Al Achkar, Abdulsamad Wafa, Abdulmunim Aljapawe, Moneeb Abdullah Kassem Othman, Thomas Liehr

  KEYWORDS: Chronic Myeloid Leukemia (CML); Ring Chromosome 7; Del(7p); Fluorescence in Situ Hybridization (FISH); Reverse Transcription Polymerase Chain Reaction (RT-PCR); Array-Proven Multicolor Banding (aMCB)

  JOURNAL NAME: Case Reports in Clinical Medicine, Vol.2 No.9, December 13, 2013

  ABSTRACT: The so-calledPhiladelphia(Ph) chromosome is present in more than 90% of chronic myeloid leukemia (CML) cases. It results in juxtaposition of the 5' part of the BCR gene on chromosome 22 and the 3' part of the ABL1 gene on chromosome 9. An additional acquired monosomy 7 or deletion of 7q is associated with poor prognosis in a variety of myeloid disorders. Here we report a novel Ph chromosome positive CML case with a ring chromosome 7 [r(7)]. Immunophenotyping was compatible with CML, although 4.5% of total leucocytes appeared like acute myelogeneous leukemia (AML) subtype M2. The r(7) was characterized in detail by array-proven multicolor banding (aMCB), the latter being of enormous significance to characterize breakpoint regions in detail. Underlying mechanisms and prognostic are discussed, as ring chromosomes are rare cytogenetic abnormalities in hematopoietic malignancies.