RESUMO
Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. Bloom syndrome is characterized by chromosome instability, physical stigmata, growth deficiency, immunodeficiency, and a predisposition to cancer, most commonly leukemias, although solid tumors are reported as well. Bloom syndrome occurs in multiple ethnic groups with a higher incidence in persons of Ashkenazi Jewish origin. Few patients of Hispanic ethnicity have been reported. We report here a Mexican American family with a BLM pathogenic variant, c.2506_2507delAG, previously reported in a single patient from Mexico. In this family of four siblings, three have phenotypic features of Bloom syndrome, and BLM gene mutation was homozygous in these affected individuals. Our proband developed a rhabdomyosarcoma. Analysis of surrounding markers in the germline DNA revealed a common haplotype, suggesting a previously unrecognized founder mutation in the Hispanic population of Mexican origin.
Assuntos
Síndrome de Bloom/genética , Americanos Mexicanos , Mutação , Rabdomiossarcoma/complicações , Rabdomiossarcoma/genética , Alelos , Síndrome de Bloom/patologia , Pré-Escolar , Predisposição Genética para Doença/genética , Homozigoto , Humanos , Masculino , México/epidemiologia , Linhagem , Polimorfismo de Nucleotídeo Único , RecQ Helicases/genética , Rabdomiossarcoma/patologiaRESUMO
OBJECTIVE: To perform a comparative assessment of the clinical and epidemiological aspects of testicular tumors in childhood and adolescence. METHODS: Retrospective analysis of medical records of patients with testicular or paratesticular neoplasms. Patients under 10 years were classified as children and patients between 10 and 20 were classified as adolescents. The obtained results were compared through the two-sample test for proportions: non-parametric Mann-Whitney test and log-rank test. RESULTS: 60 patients were admitted in the period from January 1992 to July 2009: 34 children and 26 adolescents with testicular or paratesticular neoplasms. The main manifestations were testicular tumor and scrotal pain. Pain complaints were more common in adolescents (p = 0.006), who presented a mean time from disease onset to diagnosis of 4.9 months, longer than children, who presented a period of 2.3 months from disease onset to diagnosis (p = 0.01). Histological types were as follows: germ cell tumors in 32/60 (53%), rhabdomyosarcomas (RMSs) in 23/60 (38.3%), and other in 5/60 (8.3%). Adolescents presented a higher incidence of RMSs, lymph node metastases (p = 0.003) and distant metastases (p = 0.035). Differences in survival rates among the studied patients were not statistically significant, the only indicative being that survival in RMS cases is longer for children (p = 0.072). CONCLUSIONS: Compared to children, adolescents with testicular tumor presented longer time from disease onset to diagnosis, aggressive histological type and advanced illness at diagnosis, despite the small sample analyzed.
Assuntos
Neoplasias Embrionárias de Células Germinativas , Neoplasias Testiculares , Dor Aguda/etiologia , Adolescente , Distribuição por Idade , Brasil/epidemiologia , Criança , Métodos Epidemiológicos , Humanos , Neoplasias Hepáticas/secundário , Neoplasias Pulmonares/secundário , Masculino , Neoplasias Embrionárias de Células Germinativas/complicações , Neoplasias Embrionárias de Células Germinativas/epidemiologia , Neoplasias Embrionárias de Células Germinativas/patologia , Rabdomiossarcoma/complicações , Rabdomiossarcoma/epidemiologia , Rabdomiossarcoma/patologia , Escroto , Taxa de Sobrevida , Neoplasias Testiculares/complicações , Neoplasias Testiculares/epidemiologia , Neoplasias Testiculares/patologia , Fatores de Tempo , Adulto JovemRESUMO
OBJETIVO: Avaliar comparativamente aspectos clínicos e epidemiológicos dos tumores de testículo na infância e adolescência. MÉTODOS: Análise retrospectiva dos prontuários de pacientes com neoplasias de testículo ou paratesticulares. Foram classificados como crianças os menores de 10 anos e como adolescentes os pacientes entre 10 e 20 anos. Os resultados obtidos foram comparados por meio do teste para duas proporções: teste não paramétrico de Mann-Whitney e teste de log-rank. RESULTADOS: No período de janeiro de 1992 a julho de 2009, foram admitidos 60 pacientes: 34 crianças e 26 adolescentes com neoplasias de testículo ou paratesticulares. As principais manifestações foram tumor e dor na bolsa escrotal. A queixa de dor foi mais comum em adolescentes (p = 0,006). Estes apresentaram tempo médio de história de 4,9 meses, mais prolongado do que crianças, com 2,3 meses (p = 0,01). Os tipos histológicos encontrados foram: tumores de células germinativas em 32/60 (53 por cento), rabdomiossarcomas (RMSs) em 23/60 (38,3 por cento) e outros em 5/60 (8,3 por cento). Os adolescentes apresentaram maior frequência de RMSs, metástases em linfonodos (p = 0,003) e a distância (p = 0,035). As diferenças na sobrevida dos pacientes estudados não foram estatisticamente significantes, havendo apenas indicativo de que a sobrevida, nos casos de RMS, é maior nas crianças (p = 0,072). CONCLUSÕES: Os adolescentes com tumor testicular apresentaram maior tempo de história, tipo histológico agressivo e doença avançada ao diagnóstico quando comparados às crianças, a despeito da pequena amostra.
OBJECTIVE: To perform a comparative assessment of the clinical and epidemiological aspects of testicular tumors in childhood and adolescence. METHODS: Retrospective analysis of medical records of patients with testicular or paratesticular neoplasms. Patients under 10 years were classified as children and patients between 10 and 20 were classified as adolescents. The obtained results were compared through the two-sample test for proportions: non-parametric Mann-Whitney test and log-rank test. RESULTS: 60 patients were admitted in the period from January 1992 to July 2009: 34 children and 26 adolescents with testicular or paratesticular neoplasms. The main manifestations were testicular tumor and scrotal pain. Pain complaints were more common in adolescents (p = 0.006), who presented a mean time from disease onset to diagnosis of 4.9 months, longer than children, who presented a period of 2.3 months from disease onset to diagnosis (p = 0.01). Histological types were as follows: germ cell tumors in 32/60 (53 percent), rhabdomyosarcomas (RMSs) in 23/60 (38.3 percent), and other in 5/60 (8.3 percent). Adolescents presented a higher incidence of RMSs, lymph node metastases (p = 0.003) and distant metastases (p = 0.035). Differences in survival rates among the studied patients were not statistically significant, the only indicative being that survival in RMS cases is longer for children (p = 0.072). CONCLUSIONS: Compared to children, adolescents with testicular tumor presented longer time from disease onset to diagnosis, aggressive histological type and advanced illness at diagnosis, despite the small sample analyzed.
Assuntos
Adolescente , Criança , Humanos , Masculino , Adulto Jovem , Neoplasias Embrionárias de Células Germinativas , Neoplasias Testiculares , Distribuição por Idade , Dor Aguda/etiologia , Brasil/epidemiologia , Métodos Epidemiológicos , Neoplasias Hepáticas/secundário , Neoplasias Pulmonares/secundário , Neoplasias Embrionárias de Células Germinativas/complicações , Neoplasias Embrionárias de Células Germinativas/epidemiologia , Neoplasias Embrionárias de Células Germinativas/patologia , Rabdomiossarcoma/complicações , Rabdomiossarcoma/epidemiologia , Rabdomiossarcoma/patologia , Escroto , Taxa de Sobrevida , Fatores de Tempo , Neoplasias Testiculares/complicações , Neoplasias Testiculares/epidemiologia , Neoplasias Testiculares/patologiaRESUMO
Primary or secondary neoplasms can affect the heart. Secondary are more common. However, primary neoplasms are relevant because is a group with diverse genesis, behavior, treatment and clinical manifestations. We present a case of a 45 year-old woman, with recurrent syncope started 1 year before her first consult. She had palpitations and chest pain. Echocardiography identified a left atrium mass of 2.1x1.8 cm. Endomyocardial biopsy document a primary rhabdomyosarcoma of the heart. The patient dies after a overall-survival of 22 months. This case presented had a good study of its symptoms with an accurate diagnosis and early treatment, which provided prolonged survival of this rare and aggressive neoplasm.
Assuntos
Neoplasias Cardíacas/complicações , Rabdomiossarcoma/complicações , Síncope/etiologia , Evolução Fatal , Feminino , Humanos , Pessoa de Meia-Idade , RecidivaRESUMO
El corazón puede ser afectado por neoplasias primarias o secundarias. Estas últimas son más frecuentes. Sin embargo, las neoplasias primarias adquieren particular importancia ya que constituyen un grupo de diverso origen y comportamiento, que se traduce en un tratamiento y manifestaciones clínicas diferentes. Se presenta el caso de una mujer de 45 años, quien consultó por síncopes a repetición de un año de evolución, acompañados de palpitaciones y dolor torácico. El ecocardiograma identificó masa de 2.1 cm por 1.8 cm en aurícula izquierda. La biopsia endomiocárdica demostró un rabdomiosarcoma primario de corazón. La paciente muere luego de documentarse una sobrevida de 22 meses. En este caso se observó una sobrevida prolongada, gracias al adecuado estudio de sus síntomas, diagnóstico y tratamiento precoz.
Primary or secondary neoplasms can affect the heart. Secondary are more common. However, primary neoplasms are relevant because is a group with diverse genesis, behavior, treatment and clinical manifestations. We present a case of a 45 year-old woman, with recurrent syncope started 1 year before her first consult. She had palpitations and chest pain. Echocardiography identifed a left atrium mass of 2.1 x 1.8 cm. Endomyocardial biopsy document a primary rhabdomyosarcoma of the heart. The patient dies after a overall-survival of 22 months. This case presented had a good study of its symptoms with an accurate diagnosis and early treatment, which provided prolonged survival of this rare and aggressive neoplasm.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Cardíacas/complicações , Rabdomiossarcoma/complicações , Síncope/etiologia , Evolução Fatal , RecidivaRESUMO
Xp11.2 translocation-associated renal cell carcinoma (RCC) is a rare tumor that accounts for at least one-third of childhood RCC. Different reports have emphasized that previous radio/chemotherapy might be involved in its pathogenesis. We describe a child who developed a t(X;1)(p11.2;p34) associated RCC after previous treatment for genitourinary rhabdomyosarcoma in infancy. The presence of the PSF-TFE3 fusion has only been described in a very limited number of cases. Our report expands the spectrum of tumors in which RCC can arise in the pediatric age group after chemotherapy.
Assuntos
Carcinoma de Células Renais/genética , Neoplasias Renais/genética , Fusão Oncogênica , Proteínas de Ligação a RNA/genética , Adolescente , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos , Carcinoma de Células Renais/patologia , Regulação Neoplásica da Expressão Gênica , Humanos , Neoplasias Renais/patologia , Masculino , Fator de Processamento Associado a PTB , Rabdomiossarcoma/complicações , Rabdomiossarcoma/tratamento farmacológico , Neoplasias Urogenitais/complicações , Neoplasias Urogenitais/tratamento farmacológicoRESUMO
INTRODUCTION: In children, vasculitis as a paraneoplastic syndrome has never been reported before. In this work we report a vasculitis syndrome as a neoplasm onset manifestation in a child and we discuss our case regarding the data from literature. CASE REPORT: A 7-year-old girl presented with hand and foot ulceration, fixed cyanosis and pallor. During investigation, a central nervous system (CNS) rhabdomyosarcoma with metastasis on multiple sites was diagnosed. DISCUSSION: Rhabdomyosarcomas represent 5 to 8% of child neoplasms, although the CNS seldom is the primary site. In the indexed English language literature there were no published cases of vasculitis associated with rhabdomyosarcoma as a paraneoplastic syndrome in childhood, which suggests that the described report is the first being published. Awareness of this possible coexistence could allow to an earlier diagnosis of neoplasms expressed by vasculitis, leading to an earlier treatment and a longer survival.
Assuntos
Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnóstico , Síndromes Paraneoplásicas/diagnóstico , Rabdomiossarcoma/complicações , Rabdomiossarcoma/diagnóstico , Pele/irrigação sanguínea , Vasculite/etiologia , Criança , Feminino , HumanosRESUMO
Os autores relatam um caso raro de obstrução urinária aguda por rabdomiossarcoma pélvico envolvendo a próstata em uma criança de quatro anos e seis meses de idade. São comentados as características desses tumores, as formas de apresentação clínica, os aspectos diagnósticos por imagem ultra-som, cistografia e tomografia computadorizada , o tratamento com poliquimioterapia e o prognóstico.
The authors report a rare case of acute urinary obstruction caused by pelvic rhabdomyosarcoma in a 4-year-old children. The diagnosis aspects for imaging e some therapeutic considerations are related.
Assuntos
Humanos , Masculino , Pré-Escolar , Dactinomicina/uso terapêutico , Dimetoato/uso terapêutico , Neoplasias Pélvicas/complicações , Neoplasias Pélvicas/tratamento farmacológico , Rabdomiossarcoma/complicações , Rabdomiossarcoma/tratamento farmacológico , Retenção Urinária/etiologia , Vincristina/uso terapêuticoRESUMO
Presentamos nuestra experiencia en colangiorresonancia dirigida a determinar los aportes referidos al diagnóstico de la enfermedad obstructiva de la vía biliar y su utilidad comparativa con otros métodos estudiando 32 pacientes que en la mayoría de los casos nos aportaron estudios previos tales como ecografía, TC, colangiopancreatografía retrógrada endoscópica (CPRE) y colangiografía transparietohepática (CTPH). A la luz de los resultados obtenidos presentamos en forma integral los casos más significativos, concluyendo que la colangiorresonancia es un método sumamente útil para el diagnóstico de la enfermedad obstructiva de la vía biliar, con la ventaja de ser un método no invasivo, que no requiere preparación alguna y no utiliza sustancias de contraste