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Updated: May 30, 2026
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Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Gray zone lymphoma: chromosomal aberrations with immunophenotypic and clinical correlations
Franziska C Eberle1, Itziar Salaverria, Christian Steidl
1Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Summary
Gray zone lymphoma, a transitional form between Hodgkin's lymphoma and diffuse large B-cell lymphoma, shows distinct genetic alterations. These genetic changes, particularly in mediastinal cases, suggest a close relationship between these lymphoma subtypes.
Area of Science:
- Hematology
- Oncology
- Pathology
Background:
- Gray zone lymphoma (GZL) exhibits intermediate features between classical Hodgkin's lymphoma (cHL) and diffuse large B-cell lymphoma (DLBCL).
- Limited histopathological and genetic data exist for GZL, particularly concerning its relationship with primary mediastinal large B-cell lymphoma (PMBCL).
Purpose of the Study:
- To investigate the morphologic, immunophenotypic, and genetic characteristics of GZL.
- To explore the relationship between GZL, cHL, and PMBCL through genetic analysis.
- To identify potential genetic drivers and their association with clinical presentation, especially mediastinal involvement.
Main Methods:
- Morphological and immunophenotypic analysis of GZL, mediastinal composite lymphoma, and mediastinal synchronous/metachronous lymphoma cases.
- Fluorescence in situ hybridization (FISH) to detect genetic aberrations, including gains/amplifications and rearrangements.
- Correlation of genetic findings with clinicopathological features, such as mediastinal involvement and patient age.
Main Results:
- Mediastinal involvement was observed in 73% of patients, who were significantly younger than those without mediastinal disease.
- Frequent genetic alterations included gains in 2p16.1 (REL/BCL11A) in 33% and 9p24.1 (JAK2/PDL2) in 55% of patients.
- Rearrangements of CIITA (16p13.13) and gains of 8q24 (MYC) were observed in 27% of cases, with a trend towards higher incidence in mediastinal GZL.
- Morphological subgroups of GZL showed similar expression of Cyclin E and p63, supporting a spectrum of disease.
Conclusions:
- GZL shares genetic similarities with both cHL and PMBCL, reinforcing their close relationship.
- Specific genetic aberrations, particularly involving 2p16.1, 9p24.1, and 8q24, are prevalent in GZL, especially in mediastinal cases.
- These findings suggest that GZL represents a distinct entity with a unique genetic profile that bridges cHL and DLBCL, with potential implications for diagnosis and treatment.
