目的 探讨系统性ALK阴性间变性大细胞淋巴瘤(anaplastic large cell lymphoma,ALCL)的临床病理特点、分子特征、治疗和预后.方法 回顾性分析18例系统性ALK-ALCL的临床病理特征、免疫表型特点,行HE、免疫组化染色、FISH和NGS检测,并复习相关文献.结果 系统性ALK-ALCL好发于老年男性,常位于进展期,以淋巴结病变为主,结外原发部位包括原发胰腺、原发胸椎;形态学显示17例呈普通型,1例呈"霍奇金样"型.免疫表型:肿瘤细胞中CD30均弥漫强阳性(＞75％),CD2(16/17)、CD3(13/18)、CD5(4/18)、CD7(8/18)、CD4(14/18)、TIA-1(16/18)、CD8(2/16)、GATA-3(10/12)、EMA(3/5)、MUM1(12/12)、CD43(6/6)和CD56(2/8)不同程度阳性,Ki67增殖指数30％～90％,PD-L1(22C3)(TPS=0～100％),ALK、CD15、CD79α和CD20均阴性;FISH检测:5例TP63缺失,2例DUSP22缺失.NGS检测:16例发生基因突变,基因突变频率0～11个,平均4.2个基因突变;伴TP63重排的ALK-ALCL更易发生于女性,多发于淋巴结,临床分期晚,易伴p53基因异常.结论 伴TP63重排的系统性ALK-ALCL与诸多不良因素相关,临床过程多呈侵袭性,预后不佳.
Pathological diagnosis of systemic ALK negative anaplastic large cell lymphoma
Purpose To investigate the clinical and patho-logical characteristics,molecular characteristics,treatment and prognosis of systemic ALK-negative anaplastic large cell lympho-ma(ALCL).Methods Retrospective analysis was conducted on the clinical pathology,immunophenotype,molecular charac-teristics,treatment and prognosis of 18 cases of systemic ALK-ALCL.HE,immunohistochemistry,FISH,and NGS tests were performed,and relevant literatures were reviewed.Results Systemic ALK-ALCL tended to occur in elderly men,often in the advanced stage,mainly in lymph node lesions.The extran-odal primary sites included the primary pancreas and primary thoracic vertebrae.Morphological examination showed 17 cases belong to common type,1 case belong to"Hodgkin like"type.CD30 was diffuse and strongly positive in tumor cells(＞75％),CD2(16/17),CD3(13/18),CD5(4/18),CD7(8/18),CD4(14/18),TIA-1(16/18),CD8(2/16),GATA-3(10/12),EMA(3/5),MUM1(12/12),CD43(6/6)and CD56(2/8)were positive to varying degrees.The Ki67 proliferation index of 30％to 90％,PD-L1(22C3)(TPS=0-100％),ALK,CD15,CD79α and CD20 were all negative.FISH detection:5 cases of TP63 deficiency and 2 cases of DUSP22 deficiency;NGS detection:16 cases of gene mutations occurred,with a fre-quency of 0-11 gene mutations and an average of 4.2 gene mu-tations;ALK-ALCL with TP63 rearrangement was more likely to occur in women,mostly in lymph nodes,late clinical staging,susceptibility to p53 gene abnormalities,low PD-L1 expression rate and high mortality rate.Conclusion Systemic ALK-ALCL with TP63 rearrangement is associated with many adverse factors,the clinical process is often invasive with poor progno-sis.
anaplastic large cell lymphomaALK negativeclinical pathologyTP63
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维普
