Blood:20号染色体缺失是乳房植入物相关间变性大细胞淋巴瘤的特征!

2021-01-05 Nebula MedSci原创

乳房植入相关间变性大细胞淋巴瘤(BIA-ALCL)是一种非常罕见的由单一环境刺激引起的T细胞淋巴瘤

乳房植入相关间变性大细胞淋巴瘤(BIA-ALCL)是一种非常罕见的由单一环境刺激引起的T细胞淋巴瘤,但其发生率呈上升趋势。

在本研究中,Tjitske等对一个相对较大的BIA-ALCL队列(n=29)进行了综合性遗传分析,明确了其中一个子集(n=7)的全基因组染色体拷贝数变异(CNA)和突变图谱。为了进行比较,研究人员还获得了间变性淋巴瘤激酶(ALK)阴性(-)结节性间变性大细胞淋巴瘤(ALCL;n=24)的CNA。

29例BIA-ALCL和ALK-nALCL的CNA

经分析发现,在94%的BIA-ALCL中检测到了CNA,其中66%的样本的拷贝数缺失位于染色体20q13.13区域。20q13.13缺失是BIA-ALCL不同于其他类型ALCL的特征,如原发性皮肤型ALCL、全身型ALK+和ALK-ALCL。

血清BIA-ALCL和肿瘤BIA-ALCL的CNA对比

突变模式证实,白细胞介素-6-JAK1-STAT3通路失调。虽然这在不同类型的T细胞淋巴瘤中都很常见,但该通路在BIA-ALCL中失调的程度明显更高。

总之,BIA-ALCL中20号染色体的特征性丢失进一步证明了BIA-ALCL是一个独立的疾病实体。此外,CNA分析可以作为未来有乳房植入物的女性的诊断试验的参数,以区分是由BIA-ALCL引起的血清肿还是其他原因,如感染或创伤,引起的血清肿。

原始出处:

Los-de Vries G Tjitske,de Boer Mintsje,van Dijk Erik et al. Chromosome 20 loss is characteristic of breast implant-associated anaplastic large cell lymphoma.[J] .Blood, 2020, 136: 2927-2932.

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    2021-01-07 huangdf
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    2021-01-07 linagood
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    2021-01-07 jiyangfei
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    2021-01-05 ms5000000584818392

    学习了,受益匪浅

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