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Partial Trisomy 1q21-qter and Partial Monosomy 7q21-qter Due to a Derivative Chromosome 7 in Myelodysplastic Syndrome Associated with Squamous Cell Carcinoma: Case Report

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Case Reports in Clinical Medicine 2016年第12期5卷 518-527页

作者： Abdulsamad Wafa Faten Moassass Thomas Liehr abdulmunim aljapawe Walid Al Achkar Chromosomes Laboratory Human Genetics Division Molecular Biology and Biotechnology Department Syrian Atomic Energy Commission Damascus Syria Jena University Hospital Institute of Human Genetics Jena Germany Flow-Cytometry Unit Mammalians Biology Division Molecular Biology and Biotechnology Department Syrian Atomic Energy Commission Damascus Syria

Background: Myelodysplastic syndromes (MDS) are subtypes of hematological disorders which are known to have partial bone marrow dysplasia, peripheral cytopenia, and later on an increased risk to develop acute myeloid leukemia. Chromosomal aberrations are detected in ~50% of cases of de novo MDS cases and the most common chromosomal abnormalities of this entity include complete or partial monosomy of chromosomes 5 and 7, partial deletion of 20q and 12p, trisomy 8, and 11q23 aberrations. A few primary and/or secondary MDS cases combined with other cancer have been reported. Case Presentation: We report here an adult MDS associated with squamous cell carcinoma (SCC). G-banding and array-proven multicolor banding (aMCB) revealed an unbalanced translocation der(7)t(1;7)(q21;q21), which led to 1q partial trisomy and 7q partial monosomy. Immunophenotype of this case was consistent with refractory anemia with excess of blasts (RAEB-2) according to World Health Organization (WHO) classification. Conclusions: As far as we know, this is the first adult MDS case associated with SCC and an unbalanced translocation t(1;7). Our patient received first cycle of azacitidine treatment and he showed bilateral pleural effusion as a secondary event. This toxicity is not limited to the first cycle as in previous MDS cases;our case is the first one to shown this toxicity as a secondary event of azacitidine treatment. As less than 10 cytogenetcially comparable cases without SCC were reported before in male MDS, we carefully conclude that this cytogenetic aberration may be a hint on a new gender associated MDS subgroup.

关键词： Myelodysplastic Syndrome (MDS) Cytogenetics Fluorescence in Situ Hybridization (FISH) Squamous Cell Carcinoma (SCC) Prognostic Factors

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

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Case Reports in Clinical Medicine 2013年第9期2卷 517-520页

作者： Walid Al Achkar Abdulsamad Wafa abdulmunim aljapawe Moneeb Abdullah Kassem Othman Thomas Liehr Human Genetics Division Molecular Biology and Biotechnology Department Atomic Energy Commission Damascus Syria Jena University Hospital Institute of Human Genetics Jena Germany Mammalians Biology Division Molecular Biology and Biotechnology Department Atomic Energy Commission Damascus Syria

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.

关键词： 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)

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