我们在此报告一名47岁的男性,他表现为进行性轻瘫。影像学显示右上肺结节,大量双侧肾上腺转移瘤,胸腰椎骨溶解,和皮下结节。右臀部结节的活检显示低分化的转移性癌,具有高程序性细胞死亡配体1表达和广泛的染色体重排。患者在开始pembrolizumab治疗后10天死亡。尸检结果证实肺多形性癌伴广泛转移。染色体重排的定量显示了正常核型的跳跃突变,随后偏差程度进一步增加。
We herein report a 47-year-old man who presented with progressive paraparesis. Imaging revealed a right upper pulmonary nodule, massive bilateral adrenal metastases, thoracolumbar vertebral osteolysis, and subcutaneous nodules. A biopsy of the right buttock nodule revealed a poorly differentiated metastatic carcinoma with high programmed cell death-ligand 1 expression and extensive chromosomal rearrangements. The patient died 10 days after the initiation of pembrolizumab treatment. Autopsy findings confirmed pulmonary pleomorphic carcinoma with extensive metastases. Quantification of chromosomal rearrangements revealed a jump-up mutation from the normal karyotype, followed by a further incremental increase in the degree of deviation.