BACKGROUND Autosomal dominant polycystic kidney disease is defined as an inherited disorder characterized by renal cyst formation due to mutations in the PKD1 or PKD2 gene, whereas tuberous sclerosis complex is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of the TSC2 gene. A TSC2/PKD1 contiguous gene syndrome, which is caused by a chromosomal mutation that disrupts both the TSC2 and PKD1 genes, has been identified in patients with tuberous sclerosis complex and severe early-onset autosomal dominant polycystic kidney disease. The tumor tissue of patients with breast cancer with contiguous gene syndrome has a high mutation burden and produces several neoantigens. A diffuse positive immunohistochemistry staining for cluster of differentiation 8+ in the T cells of breast cancer tissue is consistent with neoantigen production due to high mutation burden. CASE PRESENTATION A 61-year-old Japanese woman who had been undergoing dialysis for 23 years because of end-stage renal failure secondary to autosomal dominant polycystic kidney disease was diagnosed as having triple-negative breast cancer and underwent mastectomy in 2015. She had a history of epilepsy and skin hamartoma. Her grandmother, mother, two aunts, four cousins, and one brother were also on dialysis for autosomal dominant polycystic kidney disease. Her brother had epilepsy and a brain nodule. Another brother had a syndrome of kidney failure, intellectual disability, and diabetes mellitus, which seemed to be caused by mutation in the CREBBP gene. Immunohistochemistry of our patient's breast tissue showed cluster of differentiation 8 and programmed cell death ligand 1 positivity. CONCLUSIONS Programmed cell death ligand 1 checkpoint therapy may be effective for recurrence of triple-negative breast cancer in a patient with autosomal dominant polycystic kidney disease and tuberous sclerosis complex.

中文翻译：

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三阴性乳腺癌合并常染色体显性多囊肾疾病和结节性硬化症的分化8和程序性细胞死亡配体1的表达簇：病例报告。

背景技术常染色体显性多囊肾病定义为遗传性疾病，其特征在于由于PKD1或PKD2基因突变引起的肾囊肿形成，而结节性硬化症是由TSC2基因突变或缺失引起的常染色体显性神经皮肤综合症。在患有结节性硬化症和严重的早发型常染色体显性多囊肾疾病的患者中，已发现由破坏TSC2和PKD1基因的染色体突变引起的TSC2 / PKD1连续基因综合征。患有连续基因综合征的乳腺癌患者的肿瘤组织具有高的突变负担并产生几种新抗原。乳腺癌组织T细胞中分化簇8+的弥散阳性免疫组织化学染色与高抗原突变产生的新抗原一致。病例介绍一名61岁的日本妇女因常染色体显性多囊肾疾病继发的终末期肾功能衰竭而接受透析23年，2015年被诊断为三阴性乳腺癌，并于2015年接受了乳房切除术。癫痫病和皮肤错构瘤的病史。她的祖母，母亲，两个姨妈，四个表弟和一个兄弟也因常染色体显性遗传性多囊肾病接受透析。她的兄弟患有癫痫病和脑结节。另一个兄弟患有肾衰竭，智力障碍和糖尿病的综合征，这似乎是由CREBBP基因突变引起的。我们患者乳房组织的免疫组织化学显示分化簇8和程序性细胞死亡配体1阳性。结论程序性细胞死亡配体1检查点疗法可能对于常染色体显性遗传多囊肾病和结节性硬化症患者的三阴性乳腺癌复发有效。