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- W2967758436 abstract "1936 Background: The molecular pathogenesis of PCNSL is largely unknown. Small preliminary studies have suggested immunoglobulin heavy chain (IGH) gene translocations may play a role, particularly those involving BCL6. The aim of this study was to determine the incidence of IGH, BCL6, and MYC gene rearrangements in PCNSL.. Design: 1.) Forty-four cases of PCNSL affecting patients without clinical evidence of immunosuppression (including HIV infection), diagnosed and treated at Mayo Clinic between 1992 and 2006. 2.) All cases were DLBL according to the World Health Organization classification. 3.) All cases had appropriate staging to confirm disease was confined to the CNS. 4.) Interphase fluorescence in-situ hybridization (FISH)using a two-color IGH-BCL6 dual-fusion probe and a two-color MYC breakapart (BAP) probe on thin sections of paraffin-embedded tumor samples. 5.) Two-color BCL6 or IGH BAP FISH probes were also used in cases showing extra FISH signals without fusion using the IGH-BCL6 probe. Result: Sufficient tumor cells for FISH analysis using the IGH-BCL6 and MYC probes were available in 43 and 39 cases, respectively. IGH-BCL6 fusion was present in 6 (14%) cases, one of which also had a separated MYC signal. Three (7%) cases showed three intact BCL6 signals using both the IGH-BCL6 and BCL6 BAP probes, indicating trisomy 3. One (2%) showed three intact IGH signals using both the IGH-BCL6 and IGH BAP probes, indicating trisomy 14. The remaining 33 (77%) cases lacked abnormalities involving IGH, BCL6, or MYC. Conclusion: In this study, IGH-BCL6 fusion was present in 14% of cases, one of which also had a translocation involving MYC and an unknown partner gene. All other cases lacked translocations involving IGH, BCL6, and MYC. The frequency of IGH-BCL6 translocations in PCNSL is less than that seen in systemic DLBCL. However, other translocations involving IGH that are not uncommon in systemic DLBCL, such as IGH-BCL2 and IGH-MYC, are rare to absent in PCNSL. These data suggest that PCNSL has a distinct pathogenesis from systemic DLBCL." @default.
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- W2967758436 date "2007-05-01" @default.
- W2967758436 modified "2023-09-23" @default.
- W2967758436 title "The frequency of specific chromosomal abnormalities in primary central nervous system lymphoma (PCNSL) differs from systemic diffuse large B-cell lymphoma (DLBL), suggesting a distinct pathogenesis." @default.
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