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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.?