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del(6)(p23) in two cases of de novo AML – a new recurrent primary chromosome abnormality

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Iqbal MA, Al-Omar HM, Owaidah T, Al-Humaidan H, Bhuiyan ZA, Sahovic E. del(6)(p23) in two cases of de novo AML – a new recurrent primary chromosome abnormality. Abstract: 

Objective: Previously, deletion 6p23 was generally reported in therapy-related secondary acute myeloid leukemia (AML) as part of complex karyotypes. In this report, we present two young adult patients with de novo AML-M2 and a terminal deletion 6p23 as a sole primary abnormality, confirmed by chromosome 6 specific subtelomeric probes. Methods: Two female patients 35 and 20 yr of age presented with anemia, but no bleeding, infections, lymphadenopathy or organomegaly. Morphological, immunophenotyping, chromosome and fluorescent in situ hybridization (FISH) analysis was performed on bone marrow aspirate cells. Results: A diagnosis of AML-M2 was confirmed in both patients by morphological and immunophenotyping studies. Chromosome analysis in case no. 1 showed deletion 6p23 in 20% of metaphases whereas in case no. 2 the deletion 6p23 was present in 100% metaphases. FISH analysis confirmed the deletion as terminal in both cases. The DEK oncogene at 6p23 in both cases was found not to be deleted. Conclusion: To our knowledge, deletion 6p23 as a sole primary abnormality was reported in only one case. The common morphological, immunophenotypic, and cytogenetic features in our two patients strongly support a separate new entity of de novo AML with deletion 6p23.
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Keywords: acute myeloid leukemia; cytogenetics; deletion 6p; subtelomere fluorescent in situ hybridization

Document Type: Research Article

Affiliations: 1: Department of Pathology and Laboratory Medicine, King Faisal Cancer Center, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia 2: Section of Adult Hematology and Bone Marrow Transplantation, King Faisal Cancer Center, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia 3: Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands

Publication date: September 1, 2006

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