TABLE 1.
Case | Age/gender | Tumor size (cm) | Fuhrman grade | TNM stagea | Histologyb | Outcomec | SDHA | VHL | Others | RCC Family histoly | Uterine leiomyomatosis | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Tumor/blood | Immunohistochemistry | Tumor | Tumor | |||||||||
1 | 48/F | 9 | 3 | pT3aN1M1 (PUL, OSS) | Eosinophilic variant of ccRCC | DOD, 7 mo | c.163T>C p.Tyr55His | Lower | None | RET: c.3275A>G, p.Asn1092Ser | None | None |
2 | 63/M | 11 | 4 | pT3bN0M1 (PUL) | pRCC2 | DOD, 13 mo | c.1969G>A p.Val657Ile | Moderate | None | PBRM1: c.3215_3216insT, p.Ala1073fs | None | |
3 | 67/M | 11 | 3 | pT3aN0M1 (PUL) | ccRCC | AWD, 95 mo | c.163T>C p.Tyr55His | Moderate | c.449delA, p.Asn150fs | None | ||
4‐1 | 66/M | 6 | 3 | pT1bN0M0 | ccRCC | NED, 97 mo | c.1969G>A p.Val657Ile | Lower | c.292T>A, p.Tyr98Asn | RCC in son (case 4‐2) and paternal cousin | ||
4‐2 | 46/M | 9 | 3 | pT3aN0M1 (PUL) | ccRCC | AWD, 38 mo | c.1969G>A p.Val657Ile | Lower | c.563T>C, p.Leu188Pro | RCC in father (case 4‐1) | ||
5‐1 | 34/F | 8 | 2 | pT3aN0M0 | pRCC2 | NED, 90 mo | c.550G>A p.Gly184Arg | Moderate | None | RET: c.2166G>A, p.Val706Met | RCC in father (case 5‐2) | None |
5‐2 | 66/M | 13 | 3 | pT3aN2M1 (PUL, OSS) | pRCC2 | AWD, 19 mo | c.550G>A p.Gly184Arg | Moderate | None | Akt1: c.726delG, p.Glu242fs RET: c.2166G>A, p.Val706Met | RCC in daughter (case 5‐1) | |
6 | 32/M | 3 | 2 | pT1aN0M0 | pRCC2 | NED, 27 mo | c.1969G>A p.Val657Ile | Lower | None | None | ||
7 | 69/M | 9 | 3 | pT2aN0M0 | pRCC2 | NED, 27 mo | c.1969G>A p.Val657Ile | Moderate | None | PBRM1: c.4337_4338insG, p.Gly1447fs | RCC in father | |
8 | 49/F | 12 | 3 | pT3aN0M1 (PUL, OSS) | Eosinophilic variant of ccRCC | AWD, 7 mo | c.550G>A p.Gly184Arg | Moderate | None | PBRM1: c.2567G>C, p.Arg856Pro; c.4337_4338insG, pGly1447fs RET: c.1465G>A, p.Asp489Asn | None | None |
9 | 71/F | 2 | 3 | pT1aN0M0 | pRCC2 | NED, 7 mo | c.163T>C p.Tyr55His | Lower | None | None | Hysterectomy |
Metastatic (M) lesions: PUL, lung; OSS, bone.
Histology: ccRCC, clear cell renal cell carcinoma; pRCC2, papillary type 2 renal cell carcinoma.
Outcome: DOD, dead of disease; AWD, alive with disease; NED, no evidence of disease.