Barone Paul D, Tam Wayne, Geyer Julia T, Leonard John P, Phillips Adrienne, Ouseph Madhu M
NewYork-Presbyterian Hospital, New York, New York, USA.
Weill Cornell Medicine, New York, New York, USA.
Pathobiology. 2025;92(2):109-120. doi: 10.1159/000541974. Epub 2024 Oct 15.
We report a case of mantle cell lymphoma (MCL) with an apparent lineage switch to an EBV-positive T-cell lymphoma. Although lineage switch is a well-documented phenomenon in some hematolymphoid diseases, such as acute leukemias or histiocytic/dendritic cell neoplasms, lineage switch from mature B-cell to T-cell lymphoma is exceedingly rare.
A 55-year-old man with an established history of MCL presented to our institution. Peripheral blood flow cytometry was consistent with MCL. Biopsy of a lumbar vertebral fracture site demonstrated MCL, EBV-associated, with large cells reminiscent of high-grade transformation (BCL1-positive). Two months later, a lymph node biopsy demonstrated an EBV-positive T-cell lymphoma without phenotypic evidence of B-cell lymphoma (BCL1-negative). Cytogenetic testing revealed CCND1::IGH fusion in all three specimens. IGH/IGK clonality testing revealed conserved monoclonal peaks in all three samples; TCR clonality testing revealed monoclonal peaks in the T-cell lymphoma, only. NGS-based molecular genetic studies revealed shared mutations between the three samples, consistent with a clonal relationship suggesting evolution from MCL to T-cell lymphoma.
This case demonstrates that lineage switch from mature B-cell to mature T-cell phenotype is possible in certain settings. Whether lineage switch in this case was potentiated by EBV infection is unclear. The loss of BCL1 expression in the T-cell lymphoma, despite conservation of the CCND1::IGH fusion, may be attributable to the downregulation of the IGH promoter as part of the shift from B-cell to T-cell phenotype.
We report a case of mantle cell lymphoma (MCL) with an apparent lineage switch to an EBV-positive T-cell lymphoma. Although lineage switch is a well-documented phenomenon in some hematolymphoid diseases, such as acute leukemias or histiocytic/dendritic cell neoplasms, lineage switch from mature B-cell to T-cell lymphoma is exceedingly rare.
A 55-year-old man with an established history of MCL presented to our institution. Peripheral blood flow cytometry was consistent with MCL. Biopsy of a lumbar vertebral fracture site demonstrated MCL, EBV-associated, with large cells reminiscent of high-grade transformation (BCL1-positive). Two months later, a lymph node biopsy demonstrated an EBV-positive T-cell lymphoma without phenotypic evidence of B-cell lymphoma (BCL1-negative). Cytogenetic testing revealed CCND1::IGH fusion in all three specimens. IGH/IGK clonality testing revealed conserved monoclonal peaks in all three samples; TCR clonality testing revealed monoclonal peaks in the T-cell lymphoma, only. NGS-based molecular genetic studies revealed shared mutations between the three samples, consistent with a clonal relationship suggesting evolution from MCL to T-cell lymphoma.
This case demonstrates that lineage switch from mature B-cell to mature T-cell phenotype is possible in certain settings. Whether lineage switch in this case was potentiated by EBV infection is unclear. The loss of BCL1 expression in the T-cell lymphoma, despite conservation of the CCND1::IGH fusion, may be attributable to the downregulation of the IGH promoter as part of the shift from B-cell to T-cell phenotype.
我们报告一例套细胞淋巴瘤（MCL）明显发生谱系转换，转变为EBV阳性T细胞淋巴瘤的病例。虽然谱系转换在某些血液淋巴系统疾病中是有充分记录的现象，如急性白血病或组织细胞/树突状细胞瘤，但从成熟B细胞淋巴瘤转变为T细胞淋巴瘤极为罕见。
一名有确诊MCL病史的55岁男性到我院就诊。外周血流式细胞术结果与MCL相符。腰椎骨折部位活检显示为与EBV相关的MCL，有大细胞，提示高级别转化（BCL1阳性）。两个月后，淋巴结活检显示为EBV阳性T细胞淋巴瘤，无B细胞淋巴瘤的表型证据（BCL1阴性）。细胞遗传学检测显示所有三个标本中均存在CCND1::IGH融合。IGH/IGK克隆性检测显示所有三个样本中均有保守的单克隆峰；TCR克隆性检测仅在T细胞淋巴瘤中显示单克隆峰。基于二代测序的分子遗传学研究显示三个样本之间存在共同突变，提示存在克隆关系，表明从MCL演变为T细胞淋巴瘤。
该病例表明在某些情况下，从成熟B细胞表型转变为成熟T细胞表型是可能的。尚不清楚该病例中的谱系转换是否由EBV感染所促进。T细胞淋巴瘤中BCL1表达缺失，尽管CCND1::IGH融合保留，可能归因于IGH启动子下调，这是从B细胞表型转变为T细胞表型的一部分。
我们报告一例套细胞淋巴瘤（MCL）明显发生谱系转换，转变为EBV阳性T细胞淋巴瘤的病例。虽然谱系转换在某些血液淋巴系统疾病中是有充分记录的现象，如急性白血病或组织细胞/树突状细胞瘤，但从成熟B细胞淋巴瘤转变为T细胞淋巴瘤极为罕见。
一名有确诊MCL病史的55岁男性到我院就诊。外周血流式细胞术结果与MCL相符。腰椎骨折部位活检显示为与EBV相关的MCL，有大细胞，提示高级别转化（BCL1阳性）。两个月后，淋巴结活检显示为EBV阳性T细胞淋巴瘤，无B细胞淋巴瘤的表型证据（BCL1阴性）。细胞遗传学检测显示所有三个标本中均存在CCND1::IGH融合。IGH/IGK克隆性检测显示所有三个样本中均有保守的单克隆峰；TCR克隆性检测仅在T细胞淋巴瘤中显示单克隆峰。基于二代测序的分子遗传学研究显示三个样本之间存在共同突变，提示存在克隆关系，表明从MCL演变为T细胞淋巴瘤。
该病例表明在某些情况下，从成熟B细胞表型转变为成熟T细胞表型是可能的。尚不清楚该病例中的谱系转换是否由EBV感染所促进。T细胞淋巴瘤中BCL1表达缺失，尽管CCND1::IGH融合保留，可能归因于IGH启动子下调，这是从B细胞表型转变为T细胞表型的一部分。
