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Characterization of a case of follicular lymphoma transformed into B-lymphoblastic leukemia
- Source :
- Molecular Cytogenetics
- Publication Year :
- 2013
- Publisher :
- Springer Science and Business Media LLC, 2013.
-
Abstract
- Follicular lymphoma (FL) is a common form of non-Hodgkin lymphoma with an ability to transform into a more aggressive disease, albeit infrequently to B-lymphoblastic leukemia/lymphoma. While t(14;18)(q32;q21) has been associated with approximately 90% cases of FL, that alteration alone is insufficient to cause FL and associated mutations are still being elucidated. The transformation of FL to B-lymphoblastic leukemia generally includes the dysregulation of MYC gene expression, typically through IGH rearrangement. Such cases of “double-hit” leukemia/lymphoma with both BCL2 and MYC translocations warrant further study as they are often not identified early, are associated with a poor prognosis, and are incompletely understood in molecular terms. Here we describe a patient with a diagnosis of FL that transformed to B-lymphoblastic leukemia. Detailed cytogenetic characterization of the transformed specimen using karyotype, fluorescence in situ hybridization, microarray and gene rearrangement analyses revealed a complex karyotype comprised principally of whole chromosome or whole arm copy number gains or losses. Smaller, single-gene copy number alterations identified by microarray were limited in number, but included amplification of a truncated EP300 gene and alterations in NEIL1 and GPHN. Analyses defined the presence of an IGH/BCL2 fusion due to a translocation as well as a MYC/IGH fusion due to an insertion, with both rearrangements involving the same IGH allele. The data illustrate the value in characterizing double-hit lymphoma cases with both traditional and novel technologies in the detailed cytogenetic workup.
- Subjects :
- medicine.medical_specialty
Follicular lymphoma
Translocation
Case Report
Chromosomal translocation
Microarray
Biology
Biochemistry
Transformation
immune system diseases
hemic and lymphatic diseases
Genetics
medicine
Genetics(clinical)
Molecular Biology
Genetics (clinical)
Biochemistry, medical
medicine.diagnostic_test
Biochemistry (medical)
Cytogenetics
Karyotype
Gene rearrangement
medicine.disease
Lymphoma
Leukemia
B-Lymphoblastic leukemia
Immunology
Cancer research
Molecular Medicine
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 17558166
- Volume :
- 6
- Database :
- OpenAIRE
- Journal :
- Molecular Cytogenetics
- Accession number :
- edsair.doi.dedup.....3337f25d199c6ae1c914de443876eada