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Transformation of double-hit follicular lymphoma to plasmablastic lymphoma: a partial role of MYC gene rearrangement
Follicular lymphoma (FL) is genetically characterized by BCL2/IGH translocation. Some FL cases histologically transform to high-grade lymphoma, and the majority of cases transform to diffuse large B-cell lymphoma. We report herein an unusual FL case that transformed to plasmablastic lymphoma (PBL) w...
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Published in: | Journal of Clinical and Experimental Hematopathology 2018, Vol.58(3), pp.128-135 |
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Main Authors: | , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | Follicular lymphoma (FL) is genetically characterized by BCL2/IGH translocation. Some FL cases histologically transform to high-grade lymphoma, and the majority of cases transform to diffuse large B-cell lymphoma. We report herein an unusual FL case that transformed to plasmablastic lymphoma (PBL) with MYC gene rearrangement as early as 12 months after FL diagnosis. IGH/MYC translocation, the most common cytogenetic abnormality seen in de novo PBL, was also detected in the transformed tumor (double-hit lymphoma). The patient became resistant to chemotherapy and died 4 months after transformation. We speculate that the “second hit” of MYC rearrangement played a crucial role in PBL transformation (PBL-T) in this case. Highly specific three-color FISH analysis demonstrated the presence of BCL2/IGH/MYC triple fusion signals on a single chromosome as we expected, but BCL2/IGH and IGH/MYC fusion signals also coexisted in a single nucleus. The PBL-T tumor was genetically heterogeneous, despite being histologically quite homogeneous PBL. Surprisingly, three-color FISH analysis revealed that the preceding FL tumor was also genetically heterogeneous, simultaneously harboring BCL2/IGH, IGH/MYC and BCL2/IGH/MYC fusion signals (i.e. double-hit lymphoma), despite being histologically quite homogeneous FL. This suggests that MYC rearrangement played a partial role in PBL-T. Genetic instability including MYC rearrangement in the preceding FL tumor would contribute to PBL-T and poor outcome in this case. This study will broaden our understanding of the pathogenesis of high-grade transformation of FL and help improve patient outcome. |
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ISSN: | 1346-4280 1880-9952 |
DOI: | 10.3960/jslrt.18003 |