Development of t(8;21) and RUNX1-RUNX1T1 in the Philadelphia-positive clone of a patient with chronic myelogenous leukemia: additional evidence for multiple steps involved in disease progression
| Autor: | Ronald Hoffman, Leonard Issa, John Mascarenhas, Vesna Najfeld, Joseph Tripodi, Manpreet Sidhu, Nathaniel Wisch |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Cancer Research medicine.medical_specialty Adolescent Oncogene Proteins Fusion Chromosomes Human Pair 21 Clone (cell biology) Trisomy Hematocrit Biology Trisomy 8 Translocation Genetic Pathogenesis Chromosome 15 Young Adult RUNX1 Translocation Partner 1 Protein hemic and lymphatic diseases Leukemia Myelogenous Chronic BCR-ABL Positive Proto-Oncogene Proteins Genetics medicine Humans Philadelphia Chromosome Molecular Biology In Situ Hybridization Fluorescence Aged medicine.diagnostic_test Cytogenetics Middle Aged medicine.disease medicine.anatomical_structure Immunology Core Binding Factor Alpha 2 Subunit Disease Progression Female Bone marrow Blast Crisis Chronic myelogenous leukemia Chromosomes Human Pair 8 Transcription Factors |
| Zdroj: | Cancer genetics. 204(3) |
| ISSN: | 2210-7762 |
| Popis: | A 65-year-old patient with a high hemoglobin and hematocrit was treated for 14 months with therapeutic phlebotomy when cytogenetics of bone marrow revealed 100% cells with the Ph chromosome and 45% of the Ph+ cells contained trisomy 8. Treatment with tyrosine kinase inhibitors did not reduce the BCR-ABL1 fusion positive clone. Instead, the Ph positive cells acquired further the t(8;21)/ RUNX1-RUNX1T1 , del(4q) and trisomy 15 chromosomal abnormalities which were resistant to further treatment. Literature review revealed eight other patients who either had t(9;22) and t(8;21) simultaneously or developed t(8;21) in the Ph positive clone. We conclude that there are rare patients with CML who either present in blast crisis with coexistence of t(9;22) and t(8;21) with or without +8, or progress to blast crisis with acquiring RUNX1-RUNX1T1 in the BCR-ABL1 clone which may or may not be therapy related and represent a later event in a multistep pathogenesis. |
| Databáze: | OpenAIRE |
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