title: Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports.
abstract: BACKGROUND
  Bloom syndrome is a rare, autosomal recessive, chromosomal instability disorder caused by mutations in the BLM gene that increase the risk of developing neoplasias, particularly lymphomas and leukemias, at an early age.
  
  
  METHODS
  Case 1 was a 10-year-old Brazilian girl, the third child of a non-consanguineous non-Jewish family, who was born at 36 weeks of gestation and presented with severe intrauterine growth restriction. She had Bloom syndrome and was diagnosed with a unilateral Wilms' tumor at the age of 3.5 years. She responded well to oncological treatment and has remained disease-free for the last 17 years. Case 2 was a 2-year-old Brazilian girl born to non-Jewish first-degree cousins. Her gestation was marked by intrauterine growth restriction. She had Bloom syndrome; a unilateral stage II Wilms' tumor was diagnosed at the age of 4 years after the evaluation of a sudden onset abdominal mass. Surgical removal, neoadjuvant chemotherapy and radiotherapy were not sufficient to control the neoplasia. The tumor recurred after 8 months and she died from clinical complications.
  
  
  CONCLUSIONS
  Our study reports the importance of rapid diagnostics and clinical follow-up of these patients.
authors.affiliation: Genetics Unit, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil. mariliamoreira@usp.br.
authors.forename: Marilia Borges
authors.initials: MB
authors.lastname: Moreira
authors.forename: Caio Robledo Dc
authors.initials: CR
authors.lastname: Quaio
authors.forename: Aline Cristina
authors.initials: AC
authors.lastname: Zandoná-Teixeira
authors.forename: Gil Monteiro
authors.initials: GM
authors.lastname: Novo-Filho
authors.forename: Evelin Aline
authors.initials: EA
authors.lastname: Zanardo
authors.forename: Leslie Domenici
authors.initials: LD
authors.lastname: Kulikowski
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim