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- Title
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports.
- Authors
Borges Moreira, Marilia; Quaio, Caio Robledo D. C.; Zandoná-Teixeira, Aline Cristina; Monteiro Novo-Filho, Gil; Zanardo, Evelin Aline; Domenici Kulikowski, Leslie; Chong Ae Kim
- Abstract
Introduction 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. Case presentation 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 diseasefree for the last 17 years. Case 2 was a 2-year-old Brazilian girl born to non-Jewish firstdegree 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. Conclusion Our study reports the importance of rapid diagnostics and clinical follow-up of these patients.
- Subjects
BLOOM syndrome; NEPHROBLASTOMA; LYMPHOMAS; LEUKEMIA; SISTER chromatid exchange
- Publication
Journal of Medical Case Reports, 2013, Vol 7, Issue 1, p1
- ISSN
1752-1947
- Publication type
Case Study
- DOI
10.1186/1752-1947-7-284