A Case of Metastatic Fumarate Hydratase-Deficient-like Renal Cell Carcinoma Successfully Managed by Ipilimumab plus Nivolumab.

Published on Jun 1, 2021in Acta Medica Okayama0.892
路 DOI :10.18926/AMO/62237
Takanori Sekito1
Estimated H-index: 1
(Okayama University),
Atsushi Takamoto5
Estimated H-index: 5
(Okayama University)
+ 14 AuthorsKohei Edamura9
Estimated H-index: 9
(Okayama University)
Sources
Abstract
We report a 62-year-old male with metastatic fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) without fumarate hydratase (FH) mutation (FH-deficient-like RCC). The International Metastatic RCC Database Consortium risk score was intermediate, and immunotherapy with nivolumab and ipilimumab (Ipi/ Nivo) was initiated. Four cycles of Ipi/Nivo and 5 cycles of nivolumab resulted in a complete response of the metastases. Hypophysitis occurred as an immune-related adverse event after four cycles of Ipi/Nivo. The prognosis of patients with FH-deficient RCC is generally poor. Few reports of FH-deficient RCC successfully treated with Ipi/Nivo have been published. Ipi/Nivo can be effective for treating FH-deficient RCC.
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#1Yasuhiro Iribe (YCU: Yokohama City University)H-Index: 5
#2Mitsuko Furuya (YCU: Yokohama City University)H-Index: 25
Last. Noboru Nakaigawa (YCU: Yokohama City University)H-Index: 27
view all 15 authors...
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant disorder that results from a germline mutation in the fumarate hydratase gene (FH). Individuals with FH mutations are at risk of developing renal cell carcinoma (RCC). Patients with HLRCC-associated RCC (HLRCC-RCC) have aggressive clinical courses, but there is as yet no standardized therapy for advanced HLRCC-RCC. We report an aggressive RCC case in a 49-year-old man. Nine weeks after undergoing a total nephrou...
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#1Mitsuko Furuya (YCU: Yokohama City University)H-Index: 25
#2Yasuhiro Iribe (YCU: Yokohama City University)H-Index: 5
Last. Masahiro Yao (YCU: Yokohama City University)H-Index: 45
view all 22 authors...
Aims Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder caused by germline mutations in fumarate hydratase (FH). Affected families have an increased risk of renal cell carcinoma (RCC). HLRCC-associated RCC (HLRCC-RCC) is highly aggressive. Clinicopathological information of genetically diagnosed patients with HLRCC-RCC contributes to the establishment of effective therapies. Methods Ten Japanese patients with HLRCC-RCC were enrolled in the study. Genetic te...
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#1Shuchi Gulati (UC: University of Cincinnati)H-Index: 9
#2Errol J. Philip (UCSF: University of California, San Francisco)H-Index: 19
Last. Sumanta K. Pal (City of Hope National Medical Center)H-Index: 63
view all 4 authors...
ABSTRACT The treatment landscape for renal cell cancer (RCC) has evolved tremendously over the last two decades. Treatment algorithms have shifted from the highly toxic drugs with marginal benefit to better tolerated and more effective targeted therapy drugs. The latter include tyrosine kinase inhibitors, vascular endothelial growth factor inhibitors, MET inhibitors and, more recently, immunotherapy drugs alone and in various combinations. The majority of treatment algorithms for non-clear cell ...
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#1Hubert D. Lau (Veterans Health Administration)H-Index: 7
#6Ming Zhou (Tufts Medical Center)H-Index: 12
Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare and recently described entity associated with hereditary leiomyomatosis and RCC syndrome. FH-deficient RCC may show variable clinical and pathologic findings, but commonly presents with locally advanced and metastatic dis
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#1Fr茅d茅rique Albarel (French Institute of Health and Medical Research)H-Index: 13
#2Frederic Castinetti (French Institute of Health and Medical Research)H-Index: 37
Last. Thierry Brue (French Institute of Health and Medical Research)H-Index: 70
view all 3 authors...
: In recent years, the development of immunotherapy has constituted a revolution in the therapy for many cancers, with a specific toxicity profile including endocrine immune-related adverse events. Immune check point inhibitors (ICI)-induced hypophysitis is a common endocrine side effect, particularly with CTLA-4 antibodies and combination therapy, with frequent hormonal deficiencies at diagnosis. It can be difficult to evoke such diagnosis as the initial clinical symptoms are not specific (head...
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#1Xiuyi Pan (Sichuan University)H-Index: 5
#2Mengni Zhang (Sichuan University)H-Index: 7
Last. Ni Chen (Sichuan University)H-Index: 17
view all 10 authors...
Aims Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a newly recognised entity in the WHO 2016 classification defined as the germline mutation of FH gene. Fumaratehydratase-deficient renal cell carcinoma (FH-deficient RCC) is recommended for tumours with FH deficiency but lacking of genetic evidences of FH germline mutation. In this study, we described the clinicopathological and molecular changes of 13 FH-deficient RCCs. Methods and results Histology features, clinicopathological ...
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#1Kiril Trpkov (U of C: University of Calgary)H-Index: 40
#2Ond艡ej Hes (Charles University in Prague)H-Index: 20
: Renal tumours include a heterogeneous and diverse spectrum of neoplasms. Recent advances in this field have significantly improved our understanding of the morphological, immunohistochemical, molecular, epidemiological and clinical characteristics of renal tumours, which led to the new Vancouver classification of renal neoplasia and the new World Health Organization (WHO) classification of renal cell tumours. This review aims to summarise the new information and evidence on several new and eme...
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: Hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma (HLRCC)/ fumarate hydratase deficient renal cell carcinoma (FHRCC) is an aggressive tumor defined by molecular genetic changes - alteration in fumarate hydratase (FH) gene. The morphologic spectrum of HLRCC/FHDRCC is remarkably variable. The presence of large nuclei and prominent dark red inclusion-like nucleoli and perinucleolar clearing are considered as helpful morphologic clue. We selected 23 renal neoplasms...
#1Marie MullerH-Index: 2
#2Marine Guillaud-Bataille (Universit茅 Paris-Saclay)H-Index: 18
Last. Sophie Ferlicot (University of Paris-Sud)H-Index: 30
view all 10 authors...
Hereditary leiomyomatosis and renal cell carcinoma syndrome is characterized by an increased risk of agressive renal cell carcinoma, often of type 2 papillary histology, and is caused by FH germline mutations. A prominent eosinophilic macronucleolus with a perinucleolar clear halo is distinctive of hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma according to the 2012 ISUP and 2016 WHO kidney tumor classification. From an immunohistochemistry perspectiv...
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#1M. MullerH-Index: 1
#2Marine Guillaud-Bataille (Universit茅 Paris-Saclay)H-Index: 18
Last. Patrick R. Benusiglio (Universit茅 Paris-Saclay)H-Index: 15
view all 4 authors...
We addressed uncertainties regarding hereditary leiomyomatosis and renal cell carcinoma (HLRCC) by exploring all French cases, representing the largest series to date. Fumarate hydratase (FH) germline testing was performed with Sanger sequencing and qPCR/MLPA. Enzyme activity was measured when necessary. We carried out whenever possible a pathology review of RCC and S-(2-succino)-cysteine (2SC)/fumarate hydratase immunohistochemistry. We estimated survival using non-parametric Kaplan-Meier. Ther...
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