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Fumarate hydratase-deficient renal cell carcinoma is a rare, aggressive kidney cancer in which the FH gene is lost, most often because the person was born with a faulty copy as part of the HLRCC syndrome, which also causes skin and womb fibroids. It strikes younger adults, is found by a stain for the missing enzyme, and needs family testing; advanced disease gets the usual kidney cancer drugs.
The 2016 WHO classification introduced hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma, and the 2022 edition names it fumarate hydratase-deficient renal cell carcinoma because sporadic cases with somatic FH loss occur (Moch 2016; Moch 2022). Immunohistochemistry for FH loss with 2-succinocysteine positivity identified 24 FH-deficient tumours among 124 cases previously diagnosed as unclassified high-grade or papillary type 2 carcinoma; FH mutations were found in 19 of 21 FH-deficient tumours, germline in all nine tested, and the median age was 44 (Am J Surg Pathol 2016). A tubulocystic carcinoma with poorly differentiated foci is a frequent pattern: of 29 such tumours (median age 46, median size 9 cm), 79 percent showed perinephric extension, 41 percent nodal involvement and 86 percent metastasis, and 55 percent had FH loss, with HLRCC identifiable in the family only retrospectively in 12 percent (Am J Surg Pathol 2016). A low-grade oncocytic form resembling SDH-deficient carcinoma also exists (Histopathology 2017).
How it differs from its parent: it is a metabolic (Krebs cycle) cancer, hereditary in most cases, aggressive even when small, and it needs germline FH testing and surveillance of relatives; the corpus's papillary page lists it as a former type 2 papillary carcinoma.
How common: about 0.5 percent of renal cell carcinomas on an unselected microarray (Am J Surg Pathol 2016).
Treatment: early and complete surgery, with no role for active surveillance of small tumours because of their aggression; advanced disease has no approved therapy of its own and is treated on the renal cell carcinoma page's VEGF and checkpoint pathways; germline testing is offered to every patient and their relatives.
Rare: 24 of 124 tumours (19 percent) previously labelled unclassified high-grade or papillary type 2 were fumarate hydratase-deficient, but only 2 of 776 (0.5 percent) unselected renal cell carcinomas on a tissue microarray; patients had a median age of 44 (Am J Surg Pathol 2016).
Renal cell carcinoma comes from the kidney's filtering cortex, urothelial cancer from the lining of the collecting system and bladder, and the adrenal on top hosts cortical and medullary (neuroblastoma) tumours.
Same organ: Collecting duct carcinoma of the kidney, Renal medullary carcinoma (SMARCB1-deficient), TFE3-rearranged (translocation) renal cell carcinoma, Succinate dehydrogenase-deficient renal cell carcinoma, Mucinous tubular and spindle cell carcinoma of the kidney, Eosinophilic solid and cystic renal cell carcinoma, Clear cell papillary renal cell tumour, Urothelial carcinoma of the urethra, Squamous cell carcinoma of the urethra, Adenocarcinoma of the urethra (including clear cell adenocarcinoma), Melanoma of the urethra, Non-muscle-invasive bladder cancer, Muscle-invasive and advanced bladder cancer, Bladder & urothelial cancer, Clear cell renal cell carcinoma, Papillary renal cell carcinoma, Chromophobe renal cell carcinoma, Renal cell carcinoma, Wilms tumour (nephroblastoma), Neuroblastoma (paediatric), Low-risk neuroblastoma (INRG very low and low risk, including stage MS), Intermediate-risk neuroblastoma, High-risk neuroblastoma, Adrenocortical carcinoma, Pheochromocytoma and paraganglioma (PPGL), Urethral cancer, Penile cancer, Localised penile cancer (organ-confined, node-negative), Node-positive and metastatic penile cancer, Localised adrenocortical carcinoma (ENSAT stage I to III, resectable), Advanced and metastatic adrenocortical carcinoma (ENSAT stage IV or unresectable), Hereditary pheochromocytoma and paraganglioma (SDHx, VHL, RET, NF1, MAX and TMEM127), Metastatic pheochromocytoma and paraganglioma
Early complete surgery; germline FH testing for the patient and relatives; advanced disease on the renal cell carcinoma page's pathways without a dedicated standard.
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Query for this cancer: (TITLE:"Fumarate hydratase-deficient renal cell carcinoma" OR ABSTRACT:"Fumarate hydratase-deficient renal cell carcinoma" OR TITLE:"HLRCC-associated" OR ABSTRACT:"HLRCC-associated" OR TITLE:"FH-deficient renal cell carcinoma" OR ABSTRACT:"FH-deficient renal cell carcinoma" OR TITLE:"Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma" OR ABSTRACT:"Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma" OR TITLE:"HLRCC-associated RCC" OR ABSTRACT:"HLRCC-associated RCC" OR TITLE:"Fumarate hydratase-deficient renal cell carcinoma HLRCC syndrome" OR ABSTRACT:"Fumarate hydratase-deficient renal cell carcinoma HLRCC syndrome") AND (treatment OR therapy OR trial OR survival OR diagnosis). Results are unfiltered search hits about Fumarate hydratase-deficient renal cell carcinoma (HLRCC-associated), not a curated reading list.
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