Derivative chromosome 9 deletions in chronic myeloid leukaemia: interpretation of atypical D-FISH pattern
- Resource Type
- Authors
- S K Ma; Thomas S.K. Wan; Li Chong Chan; W Y Au
- Source
- Journal of Clinical Pathology. 56:471-474
- Subject
- Adult
Male
medicine.medical_specialty
Pathology
Derivative chromosome
Fusion Proteins, bcr-abl
Chromosomal translocation
Biology
Leukemia, myeloid, chronic
Pathology and Forensic Medicine
Fusion gene
Short Reports
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
hemic and lymphatic diseases
Molecular genetics
medicine
Humans
Metaphase
Chromosomes, human, pair 9 - genetics
In Situ Hybridization, Fluorescence
Aged
medicine.diagnostic_test
Cytogenetics
Karyotype
General Medicine
Molecular biology
Karyotyping
Female
Chromosome Deletion
Chromosomes, Human, Pair 9
Fluorescence in situ hybridization
- Language
- ISSN
- 0021-9746
Background/Aims: New molecular cytogenetic techniques are increasingly applied as a routine investigative tool in haematological malignancies, both at diagnosis and subsequent monitoring. This report describes the interpretation of atypical signal patterns encountered using BCR-ABL dual colour dual fusion fluorescence in situ hybridisation (D-FISH) translocation probes in chronic myeloid leukaemia (CML). Methods: Interphase FISH experiments were carried out using BCR-ABL D-FISH probes in 46 patients with CML at diagnosis and during subsequent disease monitoring. Atypical hybridisation signal patterns were characterised by molecular cytogenetic techniques and correlated with conventional karyotyping. Results: Two patients showed atypical interphase D-FISH patterns with one orange, one green, and one fusion (1O1G1F) signal. The presence of BCR-ABL gene fusion was documented by a dual colour single fusion (S-FISH) probe. The submicroscopic deletion of the ABL-BCR fusion gene on the derivative chromosome 9 in these cases was subsequently characterised by metaphase FISH on relocated G banded metaphases. Conclusions: Atypical interphase D-FISH patterns should not be interpreted in isolation and should be considered in conjunction with other cytogenetic or molecular genetic investigations.
published_or_final_version