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.