Fumarate hydratase-deficient renal cell carcinoma: a case report and review of the literature.
Fumarate hydratase
Renal cell carcinoma
Journal
Journal of medical case reports
ISSN: 1752-1947
Titre abrégé: J Med Case Rep
Pays: England
ID NLM: 101293382
Informations de publication
Date de publication:
20 Apr 2023
20 Apr 2023
Historique:
received:
28
12
2022
accepted:
24
02
2023
medline:
21
4
2023
pubmed:
20
4
2023
entrez:
20
04
2023
Statut:
epublish
Résumé
Fumarate hydratase-deficient renal cell carcinoma is a rare pathological subtype that was defined by the World Health Organization (WHO 5th edition) in 2022. At present, only a few hundreds of cases have been reported worldwide, mainly in Europe and the United States. A case of a Chinese patient is reported here, along with a literature review. A 60-year-old Asian male who complained of hematuria for 20 days was admitted to the hospital. Contrast enhanced Computer Tomography showed that the volume of the right kidney was increased, with a patchy low-density shadow with infiltrative growth inside that had a significantly lower signal intensity than the renal cortex; thus, the possibility of collecting duct carcinoma or lymphoma, was considered. Enlarged perirenal and retroperitoneal lymph nodes were also seen, along with bilateral renal cysts. Eight years prior, ultrasonography had shown a complex renal cyst in the right kidney, and no treatment was administered at that time. Laparoscopic radical nephrectomy of the right kidney was performed this time, and the postoperative specimens were submitted for pathological examination. Because immunohistochemistry showed the loss of fumarate hydratase protein expression and the possibility of fumarate hydratase-deficient renal cell carcinoma was considered, corresponding molecular pathological tests were performed, and the results showed an FHp.R233H (arginine > histidine) germline mutation (inactivation mutation). The postoperative pathological diagnosis was fumarate hydratase-deficient renal cell carcinoma in the right kidney, T3aN1M0. The patient was treated with sunitinib, and bone and liver metastases developed half a year later. The treatment was then changed to axitinib and toripalimab. At present, the patient is in stable condition, and there has been no progression of the metastases. Fumarate hydratase-deficient renal cell carcinoma is a very rare renal tumor that is defined on a molecular basis. It is highly malignant and metastasizes early. Therefore, fully understanding the disease, enabling detection and diagnosis and administering treatment are particularly important.
Sections du résumé
BACKGROUND
BACKGROUND
Fumarate hydratase-deficient renal cell carcinoma is a rare pathological subtype that was defined by the World Health Organization (WHO 5th edition) in 2022. At present, only a few hundreds of cases have been reported worldwide, mainly in Europe and the United States. A case of a Chinese patient is reported here, along with a literature review.
CASE REPORT
METHODS
A 60-year-old Asian male who complained of hematuria for 20 days was admitted to the hospital. Contrast enhanced Computer Tomography showed that the volume of the right kidney was increased, with a patchy low-density shadow with infiltrative growth inside that had a significantly lower signal intensity than the renal cortex; thus, the possibility of collecting duct carcinoma or lymphoma, was considered. Enlarged perirenal and retroperitoneal lymph nodes were also seen, along with bilateral renal cysts. Eight years prior, ultrasonography had shown a complex renal cyst in the right kidney, and no treatment was administered at that time. Laparoscopic radical nephrectomy of the right kidney was performed this time, and the postoperative specimens were submitted for pathological examination. Because immunohistochemistry showed the loss of fumarate hydratase protein expression and the possibility of fumarate hydratase-deficient renal cell carcinoma was considered, corresponding molecular pathological tests were performed, and the results showed an FHp.R233H (arginine > histidine) germline mutation (inactivation mutation). The postoperative pathological diagnosis was fumarate hydratase-deficient renal cell carcinoma in the right kidney, T3aN1M0. The patient was treated with sunitinib, and bone and liver metastases developed half a year later. The treatment was then changed to axitinib and toripalimab. At present, the patient is in stable condition, and there has been no progression of the metastases.
CONCLUSION
CONCLUSIONS
Fumarate hydratase-deficient renal cell carcinoma is a very rare renal tumor that is defined on a molecular basis. It is highly malignant and metastasizes early. Therefore, fully understanding the disease, enabling detection and diagnosis and administering treatment are particularly important.
Identifiants
pubmed: 37076922
doi: 10.1186/s13256-023-03841-0
pii: 10.1186/s13256-023-03841-0
pmc: PMC10116832
doi:
Substances chimiques
Fumarate Hydratase
EC 4.2.1.2
Types de publication
Review
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
182Informations de copyright
© 2023. The Author(s).
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