Molecular characterization of complex chromosomal rearrangement: First report of novel t(7;12) (q11;q22) as part of a complex karyotype in de novo AML-M2 case |
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| Affiliation: | 1. Research and Development, SRL Ltd., Plot No. 1, Prime Square Building, S.V. Road, Goregaon (W), Mumbai, India;2. Cytogenetic Division, SRL Ltd., Plot No. 1, Prime Square Building, S.V. Road, Goregaon (W), Mumbai, India;1. Laboratory of Veterinary Histopathology in Komarno, Slovak Republic;2. Department of Animal Husbandry, Faculty of Agrobiology, Food and Natural Resources, Czech University of Life Sciences in Prague, Czech Republic;3. Physiology of Nutrition and Quality of Animal Product, Institute of Animal Science in Prague – Uhrineves, Czech Republic;4. Department of Biology, Pedagogical Faculty, Selye Janos University in Komarno, Slovak Republic;5. Institute of Experimental Medicine, Academy of Sciences of the Czech Republic in Prague, Czech Republic;6. Department of Immunology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania;7. Student of Faculty of Agrobiology, Food and Natural Resources, Czech University of Life Sciences in Prague, Czech Republic;8. Department of Biology, University of Presov in Presov, Slovak Republic;1. Pathology Department, Umraniye Education and Research Hospital, Istanbul, Turkey;2. General Surgery Department, Medeniyet University, Istanbul, Turkey;3. General Surgery Department, Umraniye Education and Research Hospital, Istanbul, Turkey;1. Department of Pathology, Erasme Hospital, Brussels, Belgium;2. Department of Pathology, Universitair Ziekenhuis, Brussels, Belgium;1. Department of Pathomorphology, Collegium Medicum, Jagiellonian University, ul. Grzegorzecka 16, 31-531 Kraków, Poland;2. Department of Urology, Collegium Medicum, Jagiellonian University, ul. Grzegorzecka 18, 31-531 Kraków, Poland;1. Department of Pathology, Samsun Training and Research Hospital, Turkey;2. Department of Pathology, 19 Mayis University, Samsun, Turkey;1. Associate Professor of Oral and Maxillofacial Surgery, Oral and Maxillofacial Diseases Research Center, Faculty of Dentistry, Mashhad University of Medical Sciences, Mashhad, Iran;2. Assistant Professor of Oral and Maxillofacial Pathology, Dental Research Center, Faculty of Dentistry, Mashhad University of Medical Sciences, Mashhad, Iran;3. Student of Oral and Maxillofacial Surgery, Oral and Maxillofacial Diseases Research Center, Faculty of Dentistry, Mashhad University of Medical Sciences, Mashhad, Iran |
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| Abstract: | The strong association of diagnostic karyotype with clinical outcome has made cytogenetics one of the most valuable diagnostic and prognostic tools for acute myeloid leukemia (AML) till today. Complex chromosomal findings are reported to be seen in nearly 10–15% of adult AMLs and are generally associated with poor outcome. In the current report, we present the results of hematologic, immunophenotypic, cytogenetic, chromosomal microarray and molecular analyses of a 60-year-old female patient diagnosed with AML-M2. Cytogenetic analysis revealed complex chromosomal findings involving seven different chromosomes. However, cytogenetic analyses were not able to precisely unveil all karyotypic changes, hence chromosomal microarray was used for further characterization. The most interesting observation was identification of a t(7;12) (q11;q22) as part of this complex karyotype. To the best of our knowledge, this is the first report of identification of novel t(7;12) (q11;q22) as part of a complex karyotype in de novo AML-M2. |
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| Keywords: | Acute myeloid leukemia Cytogenetics Chromosomal microarrays Novel t(7 12) India |
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