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

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 thir...
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Autor*in:	Moreira, Marilia Borges [verfasserIn] Quaio, Caio Robledo DC Zandoná-Teixeira, Aline Cristina Novo-Filho, Gil Monteiro Zanardo, Evelin Aline Kulikowski, Leslie Domenici Kim, Chong Ae

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2013

Schlagwörter:	Bloom syndrome Cancer risk Chromosomal instability Sister chromatid exchange Wilms’ tumor

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

Übergeordnetes Werk:	Enthalten in: Journal of medical case reports - London : BioMed Central, 2007, 7(2013), 1 vom: 30. Dez.
Übergeordnetes Werk:	volume:7 ; year:2013 ; number:1 ; day:30 ; month:12

Links:	Volltext

DOI / URN:	10.1186/1752-1947-7-284

Katalog-ID:	SPR031052479

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520			\|a 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.
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allfields	10.1186/1752-1947-7-284 doi (DE-627)SPR031052479 (SPR)1752-1947-7-284-e DE-627 ger DE-627 rakwb eng Moreira, Marilia Borges verfasserin aut Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Moreira et al.; licensee BioMed Central Ltd. 2013 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. Bloom syndrome (dpeaa)DE-He213 Cancer risk (dpeaa)DE-He213 Chromosomal instability (dpeaa)DE-He213 Sister chromatid exchange (dpeaa)DE-He213 Wilms’ tumor (dpeaa)DE-He213 Quaio, Caio Robledo DC aut Zandoná-Teixeira, Aline Cristina aut Novo-Filho, Gil Monteiro aut Zanardo, Evelin Aline aut Kulikowski, Leslie Domenici aut Kim, Chong Ae aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 7(2013), 1 vom: 30. Dez. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:7 year:2013 number:1 day:30 month:12 https://dx.doi.org/10.1186/1752-1947-7-284 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 1 30 12
spelling	10.1186/1752-1947-7-284 doi (DE-627)SPR031052479 (SPR)1752-1947-7-284-e DE-627 ger DE-627 rakwb eng Moreira, Marilia Borges verfasserin aut Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Moreira et al.; licensee BioMed Central Ltd. 2013 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. Bloom syndrome (dpeaa)DE-He213 Cancer risk (dpeaa)DE-He213 Chromosomal instability (dpeaa)DE-He213 Sister chromatid exchange (dpeaa)DE-He213 Wilms’ tumor (dpeaa)DE-He213 Quaio, Caio Robledo DC aut Zandoná-Teixeira, Aline Cristina aut Novo-Filho, Gil Monteiro aut Zanardo, Evelin Aline aut Kulikowski, Leslie Domenici aut Kim, Chong Ae aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 7(2013), 1 vom: 30. Dez. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:7 year:2013 number:1 day:30 month:12 https://dx.doi.org/10.1186/1752-1947-7-284 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 1 30 12
allfields_unstemmed	10.1186/1752-1947-7-284 doi (DE-627)SPR031052479 (SPR)1752-1947-7-284-e DE-627 ger DE-627 rakwb eng Moreira, Marilia Borges verfasserin aut Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Moreira et al.; licensee BioMed Central Ltd. 2013 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. Bloom syndrome (dpeaa)DE-He213 Cancer risk (dpeaa)DE-He213 Chromosomal instability (dpeaa)DE-He213 Sister chromatid exchange (dpeaa)DE-He213 Wilms’ tumor (dpeaa)DE-He213 Quaio, Caio Robledo DC aut Zandoná-Teixeira, Aline Cristina aut Novo-Filho, Gil Monteiro aut Zanardo, Evelin Aline aut Kulikowski, Leslie Domenici aut Kim, Chong Ae aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 7(2013), 1 vom: 30. Dez. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:7 year:2013 number:1 day:30 month:12 https://dx.doi.org/10.1186/1752-1947-7-284 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 1 30 12
allfieldsGer	10.1186/1752-1947-7-284 doi (DE-627)SPR031052479 (SPR)1752-1947-7-284-e DE-627 ger DE-627 rakwb eng Moreira, Marilia Borges verfasserin aut Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Moreira et al.; licensee BioMed Central Ltd. 2013 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. Bloom syndrome (dpeaa)DE-He213 Cancer risk (dpeaa)DE-He213 Chromosomal instability (dpeaa)DE-He213 Sister chromatid exchange (dpeaa)DE-He213 Wilms’ tumor (dpeaa)DE-He213 Quaio, Caio Robledo DC aut Zandoná-Teixeira, Aline Cristina aut Novo-Filho, Gil Monteiro aut Zanardo, Evelin Aline aut Kulikowski, Leslie Domenici aut Kim, Chong Ae aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 7(2013), 1 vom: 30. Dez. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:7 year:2013 number:1 day:30 month:12 https://dx.doi.org/10.1186/1752-1947-7-284 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 1 30 12
allfieldsSound	10.1186/1752-1947-7-284 doi (DE-627)SPR031052479 (SPR)1752-1947-7-284-e DE-627 ger DE-627 rakwb eng Moreira, Marilia Borges verfasserin aut Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Moreira et al.; licensee BioMed Central Ltd. 2013 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. Bloom syndrome (dpeaa)DE-He213 Cancer risk (dpeaa)DE-He213 Chromosomal instability (dpeaa)DE-He213 Sister chromatid exchange (dpeaa)DE-He213 Wilms’ tumor (dpeaa)DE-He213 Quaio, Caio Robledo DC aut Zandoná-Teixeira, Aline Cristina aut Novo-Filho, Gil Monteiro aut Zanardo, Evelin Aline aut Kulikowski, Leslie Domenici aut Kim, Chong Ae aut Enthalten in Journal of medical case reports London : BioMed Central, 2007 7(2013), 1 vom: 30. Dez. (DE-627)524231389 (DE-600)2269805-X 1752-1947 nnns volume:7 year:2013 number:1 day:30 month:12 https://dx.doi.org/10.1186/1752-1947-7-284 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 7 2013 1 30 12
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author	Moreira, Marilia Borges
spellingShingle	Moreira, Marilia Borges misc Bloom syndrome misc Cancer risk misc Chromosomal instability misc Sister chromatid exchange misc Wilms’ tumor Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports
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topic_title	Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports Bloom syndrome (dpeaa)DE-He213 Cancer risk (dpeaa)DE-He213 Chromosomal instability (dpeaa)DE-He213 Sister chromatid exchange (dpeaa)DE-He213 Wilms’ tumor (dpeaa)DE-He213
topic	misc Bloom syndrome misc Cancer risk misc Chromosomal instability misc Sister chromatid exchange misc Wilms’ tumor
topic_unstemmed	misc Bloom syndrome misc Cancer risk misc Chromosomal instability misc Sister chromatid exchange misc Wilms’ tumor
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title	Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports
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title_full	Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports
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author_browse	Moreira, Marilia Borges Quaio, Caio Robledo DC Zandoná-Teixeira, Aline Cristina Novo-Filho, Gil Monteiro Zanardo, Evelin Aline Kulikowski, Leslie Domenici Kim, Chong Ae
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title_sort	discrepant outcomes in two brazilian patients with bloom syndrome and wilms’ tumor: two case reports
title_auth	Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports
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 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. © Moreira et al.; licensee BioMed Central Ltd. 2013
abstractGer	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. © Moreira et al.; licensee BioMed Central Ltd. 2013
abstract_unstemmed	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. © Moreira et al.; licensee BioMed Central Ltd. 2013
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title_short	Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports
url	https://dx.doi.org/10.1186/1752-1947-7-284
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author2	Quaio, Caio Robledo DC Zandoná-Teixeira, Aline Cristina Novo-Filho, Gil Monteiro Zanardo, Evelin Aline Kulikowski, Leslie Domenici Kim, Chong Ae
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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. 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Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms’ tumor: two case reports

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