Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient



Paulina M. Núñez-Martínez, Clínica de Cáncer Hereditario, Instituto Nacional de Cardiología, Mexico City, Mexico
Lucía Taja-Chayeb, Laboratorio de Genética Molecular y Farmacogenética, Instituto Nacional de Cardiología, Mexico City, Mexico
Miguel A. Ramírez-Otero, Clínica de Cáncer Hereditario, Molecular, Instituto Nacional de Cardiología, Mexico City, Mexico
Verónica Fragoso-Ontiveros, Clínica de Cáncer Hereditario, Instituto Nacional de Cardiología, Mexico City, Mexico
Talia Wegman-Ostrosky, Clínica de Cáncer Hereditario, Instituto Nacional de Cardiología, Mexico City, Mexico
David Cruz-Robles, Departamento de Biología Molecular, Instituto Nacional de Cardiología, Mexico City, Mexico
Silvia Vidal-Millán, Clínica de Cáncer Hereditario, Instituto Nacional de Cardiología, Mexico City, Mexico


Background: 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. Case report: 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. Conclusions: 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.



Keywords: von Hippel-Lindau Disease. Chuvash polycythemia. VHL gene. Hereditary cancer syndrome. Familial erythrocytosis type 2. Polyglobulia.