CAJ | 학술논문

目的观察同时发生myc和bcl-2/IgH或bcl-6易位的B细胞淋巴瘤(“双击”淋巴瘤)的临床病理学特点.方法收集145例经活检诊断的侵袭性成熟B细胞淋巴瘤病例石蜡包埋组织,其中包括弥漫性大B细胞淋巴瘤(DLBCL) 129例,具有介于DLBCL和伯基特淋巴瘤(BL)之间特征无法分类的B细胞淋巴瘤(BCLU)5例,BL 7例和高级别滤泡淋巴瘤合并DLBCL4例,在组织芯片上进行myc、bcl-2/IgH和bcl-6系列探针的间期荧光原位杂交检测,记录基因易位情况、拷贝数变化和其他基因异常,同时收集病例的临床、病理学及随访资料.结果共检测出同时发生myc和bcl-2或bcl-6基因易位(“双击”淋巴瘤)病例5例,检出率5/145(3.4％)；其中myc伴bcl-2易位2例(原形态学诊断1例是DLBCL,1例是BCLU)；myc伴bcl-6易位3例,均为DLBCL.Ki-67阳性指数60％～100％.另发现3例bcl-2伴bcl-6易位,均为DLBCL.其余DLBCL病例中出现单个基因易位或拷贝数增加的占51.2％ (66/129).随访资料显示,5例“双击”淋巴瘤患者中3例在诊断后2年内死亡,1例失访,1例随访36个月无病生存.结论 “双击”淋巴瘤属于罕见病例,主要根据基因检测手段来诊断,形态学上不完全等同于2008 WHO分类中的BCLU这一亚型,还可表现为其他的形态学谱系.大部分患者预后差.
목적 관찰동시발생myc화bcl-2/IgH혹bcl-6역위적B세포림파류(“쌍격”림파류)적림상병이학특점.방법 수집145례경활검진단적침습성성숙B세포림파류병례석사포매조직,기중포괄미만성대B세포림파류(DLBCL) 129례,구유개우DLBCL화백기특림파류(BL)지간특정무법분류적B세포림파류(BCLU)5례,BL 7례화고급별려포림파류합병DLBCL4례,재조직심편상진행myc、bcl-2/IgH화bcl-6계렬탐침적간기형광원위잡교검측,기록기인역위정황、고패수변화화기타기인이상,동시수집병례적림상、병이학급수방자료.결과 공검측출동시발생myc화bcl-2혹bcl-6기인역위(“쌍격”림파류)병례5례,검출솔5/145(3.4％)；기중myc반bcl-2역위2례(원형태학진단1례시DLBCL,1례시BCLU)；myc반bcl-6역위3례,균위DLBCL.Ki-67양성지수60％～100％.령발현3례bcl-2반bcl-6역위,균위DLBCL.기여DLBCL병례중출현단개기인역위혹고패수증가적점51.2％ (66/129).수방자료현시,5례“쌍격”림파류환자중3례재진단후2년내사망,1례실방,1례수방36개월무병생존.결론 “쌍격”림파류속우한견병례,주요근거기인검측수단래진단,형태학상불완전등동우2008 WHO분류중적BCLU저일아형,환가표현위기타적형태학보계.대부분환자예후차.
Objective To identify and investigate clinicopathological features of B cell lymphomas with concurrent myc and bcl-2/IgH or bcl-6 translocations (" double-hit" lymphoma).Methods Tissue microarray was constructed from formalin-fixed and paraffin-embedded tissue samples of aggressive B cell lymphomas diagnosed between 2009 and 2012,including 129 cases of diffuse large B cell lymphoma (DLBCL),5 cases of B-cell lymphoma,unclassifiable with features intermediate between diffuse large B-cell lymphoma and Burkitt lymphoma (BCLU),7 cases of Burkitt lymphoma and 4 cases of high-grade follicular lymphoma with diffuse large B cell lymphoma component.Interphase fluorescence in-situ hybridization (FISH) was performed with a panel of probes including myc,bcl-2/IgH and bcl-6 to document related gene translocation and copy number changes.Medical record review was performed and follow-up data was recorded.Results Among 145 cases,5 cases (3.4％) of B cell lymphomas with concurrent myc and bcl-2/IgH or bcl-6 rearrangements (double-hit lymphomas) were identified,including 2 cases involving myc and bcl-2 translocations (1 DLBCL and 1 BCLU),and 3 cases involving myc and bcl-6 translocations (all DLBCLs).Three cases with concurrent bcl-2/IgH and bcl-6 translocations were found.Single gene translocations or increase of copy numbers were found in 66 cases,representing 51.2％ (66/129) of all de novo DLBCLs.Ki-67 index of the 5 "double-hit" lymphomas ranged from 60％ to 100％.Clinical follow-up data were available in 4 of the 5 "double-hit" lymphoma patients,three of whom died within 2 years and 1 patient was alive after 36 months of follow-up.Conclusions "Double-hit" B-cell lymphomas are rare and can only be identified by molecular detection.They should not be considered synonymous with BCLU morphologically,and may present entities within other morphological spectra.Most of the patients have a poor prognosis.Further in-depth studies of larger case numbers are required to determine the pathologic and genetic variables of the lesion.