Case Report
Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome
Table 1
Reported cases of parotid oncocytoma in Birt-Hogg-Dubé syndrome.
| Case | Year | First author and region | Age at diagnosis, years /Sex | Mutation | Pathology of parotid tumor (Age at diagnosis) | Skin | Lung (Age, years) | Kidney (Age, years) | Family history |
| 1 | 2000 | Liu et al. [5] North America | 56/M | N/A | Oncocytoma (55) | FF | PTX, LC | - | Sister (PTX, LC) |
| 2-4 | 2005 | Schmidt et al [6] North America | N/A | N/A | Oncocytoma | N/A | N/A | N/A | N/A |
| 5 | 2011 | Maffé et al. [7] Europe | 53/M | c.347 dup A (exon 5) | Oncocytoma (32, right; 43, left) | FF or TD | PTX (42) | CCC (37) | Father (hybrid CCC/on with CCC component accounting for 60% of the lesion and sigmoid adenocarcinoma) |
| 6 | 2012 | Lindor et al. [8] North America | 45/F | c.779+1 G>T (exon 7i) | Oncocytic neoplasm (45) | FF | - | - | Maternal grandfather (prostate cancer), maternal grandmother (bladder cancer, lung cancer) |
| 7 | 2013 | Pradella et al. [9] Europe | N/A | c.347 dupA (exon 5) | Oncocytoma | FF | PTX LC | N/A | N/A |
| 8 | 2016 | Present report Yoshida et al. Asia | 45/F | c.1285dupC (exon 11) | Clear cell oncocytoma (44) | - | PTX (45) LC | - | Father (PTX) Brother (PTX) |
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M: male: F: female; FF: fibrofolliculoma; TD: trichodiscomas; PTX: pneumothorax; LC: lung cysts; CCC: clear cell carcinoma; N/A: not available.
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