Han, Peng Cheng, MD
Daynna Wolff, PhD FACMG
Yajuan Liu, PhD
Rajyasree Emmadi, MD
Banumathy Gowrishankar, PhD
Jane Houldsworth, PhD
Description/Description of Disease
Renal oncocytoma (RO) is a benign but relatively rare renal epithelial tumor. Renal oncocytoma is postulated to originate from intercalated cells of collecting ducts, sharing the common origin with chromophobe renal cell carcinoma, a malignant form of kidney cancer Oncocytomas are the most frequent renal tumors in patients with Birt-Hogg-Dube syndrome (BHD). BHD is caused by mutations in the folliculin gene (FLCN). The etiology of sporadic RO is not known.
Renal oncocytomas comprise approximately 3-7% of renal epithelial neoplasms and have a slight higher prevalence in male (male: female ratio= 2~3:1)
Most cases are incidental findings with imaging without presenting symptoms, and treated with partial nephrectomy. Most oncocytoma behave in a benign fashion with no recurrence, metastasis or mortality.
Sites of Involvement
Renal cortex or cortico-medullary junction
Renal oncocytomas are solitary, well-circumscribed tumors with generally mahogany brown or dark red cut surface and frequently a central scar. Necrosis and hemorrhage are uncommon. Histologically, the overall architecture is nests, tubulocystic, solid, or trabecular patterns within myxomatous or hyalinized stroma. The cytologic features include homogenous, round and centrally located nuclei with diffuse eosinophilic cytoplasm that consists of multiple mitochondria, as revealed by electronic microscopy.
Positive (subset): [CD117].
From Cosmic Mutated in >20%
Mutated in 10-20%
Mutated in 5-10%
Mutated in 2-5%
Main Pathways Involved
Mitochrondrial electron transport chain, autophagy and golgi trafficking.
Diploid with CCND1 rearrangement (Type I); Loss of 1, 14, 21, X or Y (Type II)
Birt-Hogg-Dube syndrome (BHD): FLCN (17p11.2)
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