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一例伴CCDC6-RET融合基因及NF1/TP53突变、体能状态较差的PD-L1肺腺癌患者在开始使用帕博利珠单抗后癌症相关血栓显著减少的病例。

A case of dramatic reduction in cancer-associated thrombus following initiation of pembrolizumab in patient with a poor performance status and PD-L1 lung adenocarcinoma harboring CCDC6-RET fusion gene and NF1/TP53 mutations.

作者信息

Nakasuka Takamasa, Ohashi Kadoaki, Watanabe Hiromi, Kubo Toshio, Matsumoto Shingo, Goto Koichi, Hotta Katsuyuki, Maeda Yoshinobu, Kiura Katsuyuki

机构信息

Department of Hematology, Oncology and Respiratory Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, 700-8558, Japan.

Department of Respiratory Medicine, Okayama University Hospital, Okayama, 700-8558, Japan.

出版信息

Lung Cancer. 2021 Jun;156:1-4. doi: 10.1016/j.lungcan.2021.03.022. Epub 2021 Apr 7.

Abstract

OBJECTIVES

Pembrolizumab is a standard treatment for non-small cell lung cancer (NSCLC) with high-PD-L1 expression; however, its effect is dismal in patients with poor physical condition. Additionally, the effect of immunotherapy is generally limited in NSCLC harboring driver mutations such asEGFR, ALK, or RET gene aberrations.

RESULTS

We report the beneficial effect of pembrolizumab in a patient with poor performance status and PD-L1+ lung adenocarcinoma with theCCDC6-RET fusion gene and co-occurring NF1/TP53 mutations, complicated by multiple cancer-associated thrombi and respiratory failure.

CONCLUSIONS

Further studies are warranted to establish the role of co-occurring NF1/TP53 mutations as a positive predictive biomarker for pembrolizumab in NSCLC harboring RET fusion genes.

摘要

目的

帕博利珠单抗是高程序性死亡受体配体1(PD-L1)表达的非小细胞肺癌(NSCLC)的标准治疗药物;然而,其在身体状况较差的患者中的疗效不佳。此外,免疫疗法在携带驱动基因突变(如表皮生长因子受体(EGFR)、间变性淋巴瘤激酶(ALK)或转染重排(RET)基因畸变)的NSCLC中的效果通常有限。

结果

我们报告了帕博利珠单抗在一名体能状态较差、PD-L1阳性肺腺癌患者中的有益效果,该患者存在CCDC6-RET融合基因以及同时发生的神经纤维瘤病1型(NF1)/抑癌基因53(TP53)突变,并伴有多种癌症相关血栓和呼吸衰竭。

结论

有必要进一步研究,以确定同时发生的NF1/TP53突变作为帕博利珠单抗在携带RET融合基因的NSCLC中的阳性预测生物标志物的作用。

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