1012 例新诊断的慢性淋巴细胞白血病的细胞遗传学特征。

Cytogenetic landscape in 1012 newly diagnosed chronic lymphocytic leukemia.

机构信息

Laboratoire de Bio-toxicologie, Université de Sidi Bel Abbès, Sidi Bel Abbès, Algeria.

Institut de Génétique Médicale, CHU de Lille, Lille, France.

出版信息

Eur J Haematol. 2019 Dec;103(6):607-613. doi: 10.1111/ejh.13329. Epub 2019 Oct 1.

DOI:10.1111/ejh.13329

PMID:31512291

Abstract

BACKGROUND

Chronic lymphocytic leukemia (CLL) stratification mainly relies on FISH markers according to Döhner's hierarchical model which includes high-risk FISH markers, intermediate FISH, or low-risk FISH. Recently, complex karyotype (CK) has been demonstrated as an independent negative prognostic factor in CLL.

METHODS

A series of 1012 untreated CLL patients have been investigated with both FISH and chromosome banding analysis (CBA) on the same pellet obtained from interleukin IL-2-CPG DSP30 oligonucleotide-stimulated cultured cells.

RESULTS

Combining both FISH and CBA has led to refine prognostic categories with identification of 30% of CK in low-risk and intermediate FISH group. This raises the issue of switching them to a high-risk group. While this series confirmed the significant association between CK and high-risk FISH (P = .003), 33% of CK present no ATM or TP53 deletion. Three groups characterized by significant association between FISH markers and CBA have emerged: CK with TP53 loss and monosomy 15; CK with ATM loss and 14q32 translocation; and CK without ATM or TP53 losses but trisomies 12, 18, and 19 or t(14;18)(q32;q21).

CONCLUSION

We have observed that in addition to FISH analysis, the CBA allows detection of many abnormalities with potential impact on patient follow-up and treatment, mainly CK.

摘要

背景

慢性淋巴细胞白血病（CLL）的分层主要依赖于 FISH 标志物，根据多诺的分层模型，该模型包括高危 FISH 标志物、中危 FISH 或低危 FISH。最近，复杂核型（CK）已被证明是 CLL 的一个独立的预后不良因素。

方法

对 1012 例未经治疗的 CLL 患者进行了研究，这些患者的 FISH 和染色体带分析（CBA）是在白细胞介素 IL-2-CPG DSP30 寡核苷酸刺激培养细胞的同一颗粒上进行的。

结果

将 FISH 和 CBA 相结合，可对低危和中危 FISH 组中识别出 30%的 CK 进行更精细的预后分类。这就提出了将它们归入高危组的问题。虽然该系列证实了 CK 与高危 FISH 之间存在显著相关性（P =.003），但 33%的 CK 不存在 ATM 或 TP53 缺失。已经出现了三个与 FISH 标志物和 CBA 之间存在显著相关性的组：伴有 TP53 缺失和 15 号单体缺失的 CK；伴有 ATM 缺失和 14q32 易位的 CK；以及无 ATM 或 TP53 缺失但存在 12、18 和 19 三体或 t（14；18）（q32；q21）的 CK。