Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports

Journal of Medical Case Reports

Chong Ae Kim²  Leslie Domenici Kulikowski¹  Evelin Aline Zanardo²  Gil Monteiro Novo-Filho²  Aline Cristina Zandoná-Teixeira²  Caio Robledo DC Quaio²  Marilia Borges Moreira³ 

[1] Department of Pathology, Cytogenomic Laboratory – LIM03 – Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil;Genetics Unit, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil;Unidade de Genética do Instituto da Criança, HC – FMUSP, Av. Dr. Enéas Carvalho de Aguiar, 647, CEP: 05403-000, São Paulo, SP, Brazil

关键词: Wilms’ tumor;    Sister chromatid exchange;    Chromosomal instability;    Cancer risk;    Bloom syndrome;   

Others  :  824719
DOI  :  10.1186/1752-1947-7-284

 received in 2013-03-12, accepted in 2013-10-21,  发布年份 2013

【 摘 要 】

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 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.

Conclusion

Our study reports the importance of rapid diagnostics and clinical follow-up of these patients.

【 授权许可】

   
2013 Moreira et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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