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放射治疗在共济失调毛细血管扩张突变(ATM)突变的转移性肾细胞癌中的应用:一例报告

Use of Radiation Therapy for Ataxia-Telangiectasia Mutated (ATM)-Mutation Metastatic Renal Cell Carcinoma: A Case Report.

作者信息

Seyedin Steven N, Harada Garrett, Garemanian Eleen, Rafizadeh Desiree, Kaakour Dalia, Dwabe Sami, Daneshvar Michael, Mar Nataliya

机构信息

Radiation Oncology, University of California San Francisco Medical Center, San Francisco, USA.

Radiation Oncology, University of California Irvine Medical Center, Orange, USA.

出版信息

Cureus. 2024 Jul 17;16(7):e64781. doi: 10.7759/cureus.64781. eCollection 2024 Jul.

DOI:10.7759/cureus.64781
PMID:39156348
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11329860/
Abstract

Papillary renal cell carcinoma (pRCC) is a rare kidney cancer with limited treatment options and poor outcomes when metastatic. We present a case of a 42-year-old male with metastatic pRCC harboring a somatic ataxia-telangiectasia mutated (ATM) mutation who was treated at our institution. After progression of disease (POD) on ipilimumab/nivolumab, followed by POD on cabozantinib, the patient was treated with radiation therapy to metastatic cervical lymphadenopathy to 60 Gy in 15 fractions as well as retroperitoneal lymphadenopathy to 36 Gy in 9 fractions, which was curtailed due to intolerance. This was followed by sequential systemic therapy with a poly (ADP-ribose) polymerase (PARP) inhibitor and pembrolizumab, which was also discontinued due to adverse effects. Despite not receiving any treatment for 10 months, his disease remains stable. We believe that the prolonged progression-free survival of this patient with ATM-mutation metastatic pRCC is likely due to the enhanced sensitivity of the tumor to radiation therapy due to ATM loss.

摘要

乳头状肾细胞癌(pRCC)是一种罕见的肾癌,治疗选择有限,发生转移时预后较差。我们报告了一例42岁男性转移性pRCC患者,其携带体细胞共济失调毛细血管扩张突变(ATM),在我们机构接受治疗。在接受伊匹木单抗/纳武单抗治疗后疾病进展(POD),随后接受卡博替尼治疗后疾病进展,该患者接受了针对转移性颈部淋巴结病的放射治疗,分15次给予60 Gy,以及针对腹膜后淋巴结病的放射治疗,分9次给予36 Gy,但因不耐受而中断。随后依次使用聚(ADP - 核糖)聚合酶(PARP)抑制剂和派姆单抗进行全身治疗,也因不良反应而停药。尽管10个月未接受任何治疗,但其疾病仍保持稳定。我们认为,该ATM突变转移性pRCC患者无进展生存期延长可能是由于ATM缺失导致肿瘤对放射治疗的敏感性增强。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b14e/11329860/5ae4c68da1bc/cureus-0016-00000064781-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b14e/11329860/34625cbc4cda/cureus-0016-00000064781-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b14e/11329860/3c25763d4690/cureus-0016-00000064781-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b14e/11329860/af2b773d795d/cureus-0016-00000064781-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b14e/11329860/0f06dc221412/cureus-0016-00000064781-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b14e/11329860/5ae4c68da1bc/cureus-0016-00000064781-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b14e/11329860/34625cbc4cda/cureus-0016-00000064781-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b14e/11329860/3c25763d4690/cureus-0016-00000064781-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b14e/11329860/af2b773d795d/cureus-0016-00000064781-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b14e/11329860/0f06dc221412/cureus-0016-00000064781-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b14e/11329860/5ae4c68da1bc/cureus-0016-00000064781-i05.jpg

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