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5 slides generated from the cancer page, with a quiz from the open benchmark and speaker notes that cite the sources. Arrow keys move between slides; Print gives one slide per page.
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.
| Setting | Approach | Guideline |
|---|---|---|
| All stages | 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. | not mapped |