1. Characterization of a case of follicular lymphoma transformed into B-lymphoblastic leukemia
- Author
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Tricia Matz, Nicholas J. Neill, Yi Ning, Amy S. Kimball, Roger A. Schultz, and Aubry Foss
- 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 - 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.
- Published
- 2013