Advanced fumarate hydratase-deficient renal cell carcinoma responding to combination immune checkpoint inhibitors

被引：0
|
作者：
Howells, Erin [1 ]
Wigston, Lucas [2 ]
Mackie, Gavin [1 ]
Tran, Ben [3 ]
Nott, Louise [4 ]
机构：
[1] Royal Hobart Hosp, Hobart, Tas, Australia
[2] Flinders Univ S Australia, Adelaide, SA, Australia
[3] Peter Maallum Canc Ctr, Dept Med Oncol, Melbourne, Vic, Australia
[4] Icon Canc Ctr, Hobert, Tas, Australia
来源：
CANADIAN JOURNAL OF UROLOGY | 2023年 / 30卷 / 03期
关键词：
fumarate hydratase deficient renal cell carcinoma; ipilimumab and nivolumab; immunotherapy; checkpoint inhibitors; hereditary leiomyomatosis renal cell cancer syndrome;
D O I：
暂无
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
Fumarate hydratase deficient (FHdef) renal cell carcinoma ( RCC) is rare, highly aggressive and is believed to arise mostly in the setting of hereditary leiomyomatosis RCC ( HLRCC) syndrome with a germline mutation of fumarate hydratase (FH) gene. There is currently little evidence regarding the most effective systemic treatment for advanced FHdef RCC. We present three cases of metastatic FHdef RCC, all achieving tumor response with combination immunotherapy ipilimumab and nivolumab (Ipi/Nivo). A 50-year-old male, a 27-year-old male and a 48-year-old female. The clinical features, diagnosis and medical imaging are reviewed.
引用
收藏
页数：72
相关论文
共 50 条
  • [1] Fumarate Hydratase-Deficient Renal Cell Carcinoma
    Gupta, Sounak
    Erickson, Lori A.
    MAYO CLINIC PROCEEDINGS, 2020, 95 (03) : 619 - 621
  • [2] Fumarate Hydratase-Deficient Renal Cell Carcinoma
    Khater, Emad S.
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2024, 35 (10):
  • [3] Fumarate Hydratase-Deficient Renal Cell Carcinoma: A Review
    Chen, Diane A.
    Virk, Renu K.
    AJSP-REVIEWS AND REPORTS, 2020, 25 (06): : 280 - 283
  • [4] Safety and efficacy of immune checkpoint inhibitor rechallenge in metastatic fumarate hydratase-deficient renal cell carcinoma: A retrospective study
    Tang, Y.
    Wang, M.
    Liang, J.
    Zeng, H.
    ANNALS OF ONCOLOGY, 2024, 35 : S1522 - S1522
  • [5] Unmasking the enigma: A case of Fumarate Hydratase-deficient renal cell carcinoma
    Samar, Mirza Rameez
    Khan, Wajiha
    Rashid, Yasmin Abdul
    Mohammad, Azmina Tajuddin Vali
    INTERNATIONAL JOURNAL OF SURGERY CASE REPORTS, 2023, 113
  • [6] Response to systemic therapy in fumarate hydratase-deficient renal cell carcinoma
    Carril-Ajuria, Lucia
    Colomba, Emeline
    Cerbone, Luigi
    Romero-Ferreiro, Carmen
    Crouzet, Laurence
    Laguerre, Brigitte
    Thibault, Constance
    Vicier, Cecile
    de Velasco, Guillermo
    Flechon, Aude
    Saldana, Carolina
    Benusiglio, Patrick R.
    Bressac-de Paillerets, Brigitte
    Guillaud-Bataille, Marine
    Gaignard, Pauline
    Scoazec, Jean-Yves
    Richard, Stephane
    Caron, Olivier
    Escudier, Bernard
    Albiges, Laurence
    EUROPEAN JOURNAL OF CANCER, 2021, 151 : 106 - 114
  • [7] Integrated Molecular Characterization of Fumarate Hydratase-deficient Renal Cell Carcinoma
    Sun, Guangxi
    Zhang, Xingming
    Liang, Jiayu
    Pan, Xiuyi
    Zhu, Sha
    Liu, Zhenhua
    Armstrong, Cameron M.
    Chen, Jianhui
    Lin, Wei
    Liao, Banghua
    Lin, Tianhai
    Huang, Rui
    Zhang, Mengni
    Zheng, Linmao
    Yin, Xiaoxue
    Nie, Ling
    Shen, Pengfei
    Zhao, Jinge
    Zhang, Haoran
    Dai, Jindong
    Shen, Yali
    Li, Zhiping
    Liu, Jiyan
    Chen, Junru
    Liu, Jiandong
    Wang, Zhipeng
    Zhu, Xudong
    Ni, Yuchao
    Qin, Dan
    Yang, Ling
    Chen, Yuntian
    Wei, Qiang
    Li, Xiang
    Zhou, Qiao
    Huang, Haojie
    Yao, Jin
    Chen, Ni
    Zeng, Hao
    CLINICAL CANCER RESEARCH, 2021, 27 (06) : 1734 - 1743
  • [8] Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome
    Trpkov, Kiril
    Hes, Ondrej
    Agaimy, Abbas
    Bonert, Michael
    Martinek, Petr
    Magi-Galluzzi, Cristina
    Kristiansen, Glen
    Lueders, Christine
    Nesi, Gabriella
    Comperat, Eva
    Sibony, Mathilde
    Berney, Daniel M.
    Mehra, Rohit
    Brimo, Fadi
    Hartmann, Arndt
    Husain, Arjumand
    Frizzell, Norma
    Hills, Kirsten
    Maclean, Fiona
    Srinivasan, Bhuvana
    Gill, Anthony J.
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2016, 40 (07) : 865 - 875
  • [9] Safety and efficacy of immune checkpoint inhibitor rechallenge in metastatic fumarate hydratase-deficient renal cell carcinoma: A retrospective study.
    Tang, Yanfeng
    Wang, Minghao
    Liang, Jiayu
    Zeng, Hao
    JOURNAL OF CLINICAL ONCOLOGY, 2025, 43 (5_SUPPL)
  • [10] Fumarate hydratase-deficient renal cell carcinoma: a case report and review of the literature
    Yanting Lv
    Lide Song
    Mengjun Hu
    Journal of Medical Case Reports, 17
12345