Detection of t(12;14)(p13;q32) in a patient with IGH-CCND1 negative mantle cell lymphoma resembling ultra-high risk chronic lymphocytic leukemia.
Detection of t(12;14)(p13;q32) in a patient with IGH-CCND1 negative mantle cell lymphoma resembling ultra-high risk chronic lymphocytic leukemia.
复制标题
在患有类似超高危慢性淋巴细胞白血病的 IGH-CCND1 阴性套细胞淋巴瘤患者中检测 t(12;14)(p13;q32)。
DOI：
--
复制
发表时间：
2015-06
期刊：
影响因子：
--
通讯作者：
Li, Jianyong
中科院分区：
文献类型：
--
作者：
Wu, Yujie;Chen, Yaoyu;Xu, Wei;Li, Jianyong
T(12;14)(p13;q32) 是一种罕见的复发性染色体易位，仅在一小部分套细胞淋巴瘤 (MCL) 中发现，没有典型的 t(11;14)(q13;q32)。这种重排会导致细胞周期蛋白 D2 (CCND2) 异常过度表达，从而破坏正常的细胞周期。在此，我们报告一例 t(12;14)(p13;q32) 的微妙 MCL 病例，该病例最初被误诊为超高危慢性淋巴细胞白血病 (CLL)。一名 60 岁男性患者出现明显白细胞增多和进行性无力。外周血形态学和流式细胞术免疫表型分析表明慢性淋巴细胞白血病的诊断。使用 IGH-CCND1 探针的荧光原位杂交 (FISH) 对 CCND1 异常呈阴性，但显示了 IGH 断裂信号。 CLL 的初步诊断成立，患者接受了六个疗程的免疫化疗，包括氟达拉滨、环磷酰胺和利妥昔单抗 (FCR)。治疗结束时获得完全缓解（CR），但疾病很快复发。患者转入我院，流式细胞仪检测显示克隆细胞为CD200+(dim)、CD148+(strong)，染色体分析显示复杂核型，47,XY,t(12;14)(p13;q32),+12,del(9p21)，提示CCND2过表达，免疫染色进一步显示SOX11强阳性。确认 CCND1 阴性 MCL 的特征。最终诊断修改为伴有 CCND2 易位的罕见 MCL 亚型，并采用强化治疗方案。这个令人困惑的 MCL 病例说明了细胞遗传学分析和临床病理学诊断这种罕见 MCL 类别的重要性。
T(12;14)(p13;q32) is a rare recurrent chromosomal translocation, which has only been identified in a small subgroup of mantle cell lymphoma (MCL) without typical t(11;14)(q13;q32). This rearrangement causes aberrant over-expression of cyclin D2 (CCND2), which disrupts the normal cell cycle. Here we report a subtle case of MCL with t(12;14)(p13;q32) that was initially misdiagnosed as ultra-high risk chronic lymphocytic leukemia (CLL). A 60-year-old male patient presented with obvious leukocytosis and progressive weakness. Morphology of peripheral blood and immunophenotyping by flow cytometry pointed to a diagnosis of chronic lymphocytic leukemia. Fluorescence in situ hybridization (FISH) using IGH-CCND1 probe was negative for CCND1 abnormality, but demonstrated IGH breakapart signals. The initial diagnosis of CLL was established and the patient was treated with six courses of immunochemotherpy with fludarabine, cyclophosphamide and rituximab (FCR). Complete remission (CR) was achieved at the end of treatment, but disease relapsed quickly. The patient was transferred to our hospital, flow cytometry using additional markers showed that the clonal cells were CD200+(dim), CD148+(strong), and chromosome analysis revealed a complex karyotype, 47, XY, t(12;14)(p13;q32), +12, del(9p21), which indicated over-expression of CCND2, and immunostaining showed strong positivity of SOX11 further confirming the characteristics of CCND1-negtive MCL. The final diagnosis was revised to rare subtype of MCL with CCND2 translocation and intensive regimens were employed. This confusable MCL case illustrates the importance of cytogenetic analysis and clinicopathologic diagnosis of this rare category of MCL.
登录
查看更多内容
影响因子：
20.3
作者：
Fu, K;Weisenburger, DD;Chan, WC
通讯作者：
Chan, WC
DOI：
10.3324/haematol.2009.010264
发表时间：
2009-11-01
期刊：
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
影响因子：
--
作者：
Mozos, Ana;Royo, Cristina;Campo, Elias
通讯作者：
Campo, Elias
DOI：
10.1073/pnas.88.21.9638
发表时间：
1991-11-01
影响因子：
11.1
作者：
ROSENBERG, CL;WONG, E;ARNOLD, A
通讯作者：
ARNOLD, A
影响因子：
20.3
作者：
Salaverria, Itziar;Royo, Cristina;Bea, Silvia
通讯作者：
Bea, Silvia
影响因子：
11.4
作者：
E. Matutes;P. Carrara;Lionel J. Coignet;V. Brito‐Babapulle;N. Villamor;A. Wotherspoon;D. Catovsky
通讯作者：
E. Matutes;P. Carrara;Lionel J. Coignet;V. Brito‐Babapulle;N. Villamor;A. Wotherspoon;D. Catovsky