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

被引：8

作者：

Moreira M.B. ^{[1
,2
,3
]}

Quaio C.R.D. ^{[1
]}

Zandoná-Teixeira A.C. ^{[1
]}

Novo-Filho G.M. ^{[1
]}

Zanardo E.A. ^{[1
]}

Kulikowski L.D. ^{[2
]}

Kim C.A. ^{[1
]}

机构：

[1] Instituto da Criança, Hospital das Clínicas, Universidade de São Paulo, São Paulo, SP

[2] Department of Pathology, Hospital das Clínicas, Universidade de São Paulo, São Paulo, SP

[3] Unidade de Genética Do Instituto da Criança, HC FMUSP, São Paulo, SP, Av. Dr. Eneas Carvalho de Aguiar, 647

来源：

Journal of Medical Case Reports | / 7卷 / 1期

关键词：

Bloom syndrome; Cancer risk; Chromosomal instability; Sister chromatid exchange; Wilms' tumor;

D O I：

10.1186/1752-1947-7-284

中图分类号：

学科分类号：

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. © 2013Moreira et al.; licensee BioMed Central Ltd.

引用

共 19 条

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