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惰性套细胞淋巴瘤分子特征的研究进展

Progress in molecular feature of smoldering mantle cell lymphoma.

作者信息

Jiang Panruo, Desai Aakash, Ye Haige

机构信息

Department of Hematology, The First Affiliated Hospital of Wenzhou Medical University - Zhejiang, Wenzhou, China.

Division of Hematology, Department of Medicine, Mayo Clinic-MN, Rochester, US.

出版信息

Exp Hematol Oncol. 2021 Jul 13;10(1):41. doi: 10.1186/s40164-021-00232-3.

Abstract

Mantle cell lymphoma (MCL) is considered one of the most aggressive lymphoid tumors. However, it sometimes displays indolent behavior in patients and might not necessitate treatment at diagnosis; this has been described as "smoldering MCL" (SMCL). There are significant differences in the diagnosis, prognosis, molecular mechanisms and treatments of indolent MCL and classical MCL. In this review, we discuss the progress in understanding the molecular mechanism of indolent MCL to provide insights into the genomic nature of this entity. Reported findings of molecular features of indolent MCL include a low Ki-67 index, CD200 positivity, a low frequency of mutations in TP53, a lack of SOX11, normal arrangement and expression of MYC, IGHV mutations, differences from classical MCL by L-MCL16 assays and MCL35 assays, an unmutated P16 status, few defects in ATM, no NOTCH1/2 mutation, Amp 11q gene mutation, no chr9 deletion, microRNA upregulation/downregulation, and low expression of several genes that have been valued in recent years (SPEN, SMARCA4, RANBP2, KMT2C, NSD2, CARD11, FBXW7, BIRC3, KMT2D, CELSR3, TRAF2, MAP3K14, HNRNPH1, Del 9p and/or Del 9q, SP140 and PCDH10). Based on the above molecular characteristics, we may distinguish indolent MCL from classical MCL. If so, indolent MCL will not be overtreated, whereas the treatment of classical MCL will not be delayed.

摘要

套细胞淋巴瘤(MCL)被认为是最具侵袭性的淋巴瘤之一。然而,它有时在患者中表现出惰性,在诊断时可能不需要治疗;这被称为“冒烟型MCL”(SMCL)。惰性MCL和经典MCL在诊断、预后、分子机制和治疗方面存在显著差异。在本综述中,我们讨论了对惰性MCL分子机制理解的进展,以深入了解该实体的基因组性质。关于惰性MCL分子特征的报道结果包括低Ki-67指数、CD200阳性、TP53突变频率低、缺乏SOX11、MYC的正常排列和表达、IGHV突变、通过L-MCL16检测和MCL35检测与经典MCL的差异、P16未突变状态、ATM缺陷少、无NOTCH1/2突变、Amp 11q基因突变、无chr9缺失、微小RNA上调/下调以及近年来被重视的几个基因(SPEN、SMARCA4、RANBP2、KMT2C、NSD2、CARD11、FBXW7、BIRC3、KMT2D、CELSR3、TRAF2、MAP3K14、HNRNPH1、Del 9p和/或Del 9q、SP140和PCDH10)的低表达。基于上述分子特征,我们可以将惰性MCL与经典MCL区分开来。如果是这样,惰性MCL将不会被过度治疗,而经典MCL的治疗也不会被延迟。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0d28/8278675/2d6458b322ac/40164_2021_232_Fig1_HTML.jpg

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