Clínica de Cáncer Hereditario, Instituto Nacional de Cardiología, Mexico City, Mexico.
Laboratorio de Genética Molecular y Farmacogenética, Instituto Nacional de Cardiología, Mexico City, Mexico.
Bol Med Hosp Infant Mex. 2021 May 3;78(4):341-345. doi: 10.24875/BMHIM.20000129.
Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau-associated tumors, although mutations in the VHL gene cause both pathologies.
We present a case of a compound heterozygote patient with von Hippel-Lindau disease and familial erythrocytosis type 2. One of the mutations found in our patient, c.416C>G (p.Ser139Cys) of the VHL gene, has not been previously reported. This case is the second one reported where von Hippel-Lindau disease and familial erythrocytosis type 2 coexist in the same individual.
Despite the low frequency of familial erythrocytosis type 2 in patients with von Hippel-Lindau disease, the possibility of this diagnosis should be considered to avoid unnecessary invasive studies to explain the polyglobulia in these patients and guarantee an adequate follow-up and vigilance of both diseases.
患有家族性红细胞增多症 2 型的患者没有增加患 von Hippel-Lindau 相关肿瘤的风险，尽管 VHL 基因突变会导致这两种疾病。
我们报告了一例 von Hippel-Lindau 病和家族性红细胞增多症 2 型的复合杂合子患者。我们在患者中发现的一种突变，即 VHL 基因中的 c.416C>G（p.Ser139Cys），以前没有报道过。这是第二例报告 von Hippel-Lindau 病和家族性红细胞增多症 2 型共存于同一患者的病例。
尽管 von Hippel-Lindau 病患者中家族性红细胞增多症 2 型的频率较低，但应考虑到这种诊断的可能性，以避免对这些患者的多血症进行不必要的侵入性研究，并保证对这两种疾病进行适当的随访和警惕。
