Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
复制标题
DOI：
10.1007/s00428-021-03186-3
复制
发表时间：
2022-03
期刊：
影响因子：
--
通讯作者：
Tzankov A
中科院分区：
文献类型：
--
作者：
Vela V;Juskevicius D;Dirnhofer S;Menter T;Tzankov A
本荟萃分析旨在简要总结硬脑膜、唾液腺、甲状腺、眼附属器、肺、胃和皮肤中脾脏、淋巴结和淋巴结边缘区淋巴瘤（MZL）与体细胞变异相关的遗传情况。对MZL的测序研究进行了系统的PubMed检索。将上述器官的所有体细胞突变组合，统一注释，并创建包含25篇出版物的数据集，该出版物包含来自1663名患者的6016种变体。MZL脾组织中KLF 2（18%，103/567）和NOTCH 2（16%，118/725）是最常见的突变基因。肺和淋巴结MZL在染色质修饰剂编码基因中显示复发性突变，尤其是KMT 2D（分别为25%，13/51和20%，20/98）。相比之下，眼附件、胃和硬脑膜MZL在编码NF-κB途径化合物的基因中存在突变，特别是TNFAIP 3，分别为39%（113/293）、15%（8/55）和45%（5/11）。皮肤MZL经常有FAS突变（63%，24/38），而甲状腺MZL有更高的TET 2变体患病率（61%，11/18）。TBL 1XR 1（24%，14/58）是MZL中最常见的突变基因。不同基因的突变显示出在不同解剖位置的结和脾MZL以及结旁MZL之间的起源优先分布。识别这种突变分布模式可能有助于在困难的情况下分配MZL起源，并可能为新的更有针对性的治疗概念铺平道路。在线版本包含补充材料，可通过10.1007/s 00428 -021-03186-3获得。
This meta-analysis aims to concisely summarize the genetic landscape of splenic, nodal and extranodal marginal zone lymphomas (MZL) in the dura mater, salivary glands, thyroid, ocular adnexa, lung, stomach and skin with respect to somatic variants. A systematic PubMed search for sequencing studies of MZL was executed. All somatic mutations of the organs mentioned above were combined, uniformly annotated, and a dataset containing 25 publications comprising 6016 variants from 1663 patients was created. In splenic MZL, KLF2 (18%, 103/567) and NOTCH2 (16%, 118/725) were the most frequently mutated genes. Pulmonary and nodal MZL displayed recurrent mutations in chromatin-modifier-encoding genes, especially KMT2D (25%, 13/51, and 20%, 20/98, respectively). In contrast, ocular adnexal, gastric, and dura mater MZL had mutations in genes encoding for NF-κB pathway compounds, in particular TNFAIP3, with 39% (113/293), 15% (8/55), and 45% (5/11), respectively. Cutaneous MZL frequently had FAS mutations (63%, 24/38), while MZL of the thyroid had a higher prevalence for TET2 variants (61%, 11/18). Finally, TBL1XR1 (24%, 14/58) was the most commonly mutated gene in MZL of the salivary glands. Mutations of distinct genes show origin-preferential distribution among nodal and splenic MZL as well as extranodal MZL at/from different anatomic locations. Recognition of such mutational distribution patterns may help assigning MZL origin in difficult cases and possibly pave the way for novel more tailored treatment concepts. The online version contains supplementary material available at 10.1007/s00428-021-03186-3.
登录
查看更多内容
影响因子：
12.3
作者：
McLaren W;Gil L;Hunt SE;Riat HS;Ritchie GR;Thormann A;Flicek P;Cunningham F
通讯作者：
Cunningham F
影响因子：
10.1
作者：
Jallades L;Baseggio L;Sujobert P;Huet S;Chabane K;Callet-Bauchu E;Verney A;Hayette S;Desvignes JP;Salgado D;Levy N;Béroud C;Felman P;Berger F;Magaud JP;Genestier L;Salles G;Traverse-Glehen A
通讯作者：
Traverse-Glehen A
影响因子：
--
作者：
Ganapathi KA;Jobanputra V;Iwamoto F;Jain P;Chen J;Cascione L;Nahum O;Levy B;Xie Y;Khattar P;Hoehn D;Bertoni F;Murty VV;Pittaluga S;Jaffe ES;Alobeid B;Mansukhani MM;Bhagat G
通讯作者：
Bhagat G
影响因子：
7.5
作者：
Boonstra, R;Bosga-Bouwer, A;Poppema, S
通讯作者：
Poppema, S
影响因子：
11.4
作者：
Martinez, N.;Almaraz, C.;Piris, M. A.
通讯作者：
Piris, M. A.