Abstract
Herein, the authors have discussed a series of uncommon familial kidney cancer syndromes (including hyperparathyroidism-jaw tumor syndrome and PTEN hamartoma tumor syndrome), sporadically occurring tumors (BRAF and MTOR pathway-mutated tumors, and juxtaglomerular cell tumors), and uncommon patterns of well-established subtypes of kidney cancer (mucinous tubular spindle cell carcinoma, fumarate hydratase-deficient, and TFE3-rearranged renal cell carcinoma). The rarity of these tumors often leads to diagnostic odysseys for pathologists and patients. Appropriate classification of these rare tumors has implications for screening at-risk family members in the case of hereditary tumor predisposition syndromes, accurate prognostication, and appropriate patient selection for clinical trials.
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