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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
- Source :
- Cancer genetics. 204(3)
- Publication Year :
- 2010
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 22107762
- Volume :
- 204
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Cancer genetics
- Accession number :
- edsair.doi.dedup.....e13973bfc5a40186e082348eed81af09