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. 2021 Jun 17;112(8):3375–3387. doi: 10.1111/cas.14977

TABLE 1.

Patients and tumour characteristics

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
a

Metastatic (M) lesions: PUL, lung; OSS, bone.

b

Histology: ccRCC, clear cell renal cell carcinoma; pRCC2, papillary type 2 renal cell carcinoma.

c

Outcome: DOD, dead of disease; AWD, alive with disease; NED, no evidence of disease.