Table 1 HLRCC case presentations
From: Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review
Age, gender | Family number | Family history | Phenotype | Genotype | |||
|---|---|---|---|---|---|---|---|
CLMs | ULMs | RCC | Pathogenic variant | ||||
Patient 1 | 55, F | I | Daughter with HLRCC (patient 2) | Multiple (> 5 CLMs) | Yes (hysterectomy at age 40) | No | c.595G > C, p.Ala199Pro |
Patient 2 | 31, F | I | Mother with HLRCC (patient 1) | Multiple (> 5 CLMs) | No | No | c.595G > C, p.Ala199Pro |
Patient 3 | 36, F | II | Mother with CLMs and hysterectomy due to ULMs. Maternal uncle with RCC, onset at age 65. Several family members on the maternal side with HLRCC | Multiple (> 5 CLMs) | Yes (hysterectomy at age 36) | No | c.450 T > A, p.Asn150Lys |
Patient 4 | 41, M | III | Father with CLMs. Paternal grandmother underwent hysterectomy at the age of 28 years. Sister with HLRCC (patient 5) | Multiple (> 5 CLMs) | - | No | c.1058_1108 + 19del, p.? |
Patient 5 | 43, F | III | Brother with HLRCC (patient 4) | Multiple (> 5 CLMs) | Yes (hysterectomy at age 28) | No | c.1058_1108 + 19del, p.? |