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11q 增益/缺失畸变在 MYC 阴性 Burkitt 样淋巴瘤伴 11q 畸变、MYC 阳性 Burkitt 淋巴瘤和 MYC 阳性高级别 B 细胞淋巴瘤,NOS 中经常发生。

The 11q-Gain/Loss Aberration Occurs Recurrently in MYC-Negative Burkitt-like Lymphoma With 11q Aberration, as Well as MYC-Positive Burkitt Lymphoma and MYC-Positive High-Grade B-Cell Lymphoma, NOS.

机构信息

Cytogenetic Laboratory, Maria Sklodowska-Curie Institute Oncology Center, Warsaw, Poland.

Flow Cytometry Laboratory, Pathology and Laboratory Diagnostics Department, Maria Sklodowska-Curie Institute Oncology Center, Warsaw, Poland.

出版信息

Am J Clin Pathol. 2017 Dec 20;149(1):17-28. doi: 10.1093/ajcp/aqx139.

Abstract

OBJECTIVES

The latest revision of lymphoma's World Health Organization classification describes the new provisional entity "Burkitt-like lymphoma with 11q aberration" (BLL, 11q) as lacking MYC rearrangement, but harboring the specific11q-gain/loss aberration. We report genetic characteristics of 11 lymphoma cases with this aberration.

METHODS

Classical cytogenetics, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism/array comparative genomic hybridization.

RESULTS

The 11q aberrations were described as duplication, inversion, and deletion. Array comparative genomic hybridization showed two types of duplication: bigger than 50 megabase pairs (Mbp) and smaller than 20 Mbp, which were associated with bulky tumor larger than 20 cm and amplification of the 11q23.3 region, including KMT2A. Six cases revealed a normal FISH status of MYC and were diagnosed as BLL,11q. Five cases showed MYC rearrangement and were diagnosed as Burkitt lymphoma (BL) or high-grade B-cell lymphoma, not otherwise specified (HGBL, NOS).

CONCLUSIONS

The 11q-gain/loss is not specific for BLL, 11q, but occurs recurrently in MYC-positive BL and MYC-positive HGBL.

摘要

目的

淋巴瘤世界卫生组织分类的最新修订版将新的临时实体“具有 11q 异常的伯基特样淋巴瘤”(BLL,11q)描述为缺乏 MYC 重排,但具有特定的 11q 增益/缺失异常。我们报告了具有这种异常的 11 例淋巴瘤的遗传特征。

方法

经典细胞遗传学、荧光原位杂交(FISH)和单核苷酸多态性/微阵列比较基因组杂交。

结果

11q 异常描述为重复、倒位和缺失。阵列比较基因组杂交显示两种类型的重复:大于 50 兆碱基对(Mbp)和小于 20 Mbp,与大于 20 cm 的大肿瘤和 11q23.3 区域的扩增相关,包括 KMT2A。6 例显示 MYC 的正常 FISH 状态,并被诊断为 BLL,11q。5 例显示 MYC 重排,被诊断为伯基特淋巴瘤(BL)或高级别 B 细胞淋巴瘤,非特指(HGBL,NOS)。

结论

11q 增益/缺失不是 BLL,11q 的特异性,但在 MYC 阳性 BL 和 MYC 阳性 HGBL 中经常发生。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ffa2/5848380/163db533ae38/aqx13904.jpg

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