RESUMO
BACKGROUND: BRCA1-associated breast cancers have been associated to a triple-negative phenotype. The prevalence of BRCA1 germline mutations in young onset TNBC based on informativeness of family history has not been reported. PATIENTS AND METHODS: From January 2008 to May 2009 were collected blood and tumor samples from patients with TNBC younger than 50 years and without a family history of breast and ovarian cancer in first- and second-degree relatives. Analysis of BRCA1 germline mutations was made. Age at diagnosis and informativeness of family history (presence of female in first- and second-degree relatives alive until age 45) was collected in all cases. Immunohistochemistry of basal-like features was performed centrally in all available tumors. RESULTS: Seven pathogenic mutations were detected in 92 patients (7.6 %), two of them in patients younger than 35 years (28.6 %) (Fisher's exact test, p = 0.631). Three non-classified variants were detected (3.2 %). Family history was informative in two patients with a pathogenic mutation (28.6 %) and not informative in five (71.4 %) (Fisher's exact test, p = 0.121). Of the seven patients with a pathogenic mutation, four had a basal-like phenotype. CONCLUSION: Patients with apparently sporadic TNBC younger than 50 years and a non-informative family history are candidates for germline genetic testing of BRCA1.
Assuntos
Genes BRCA1 , Mutação em Linhagem Germinativa , Neoplasias de Mama Triplo Negativas/genética , Adulto , Idade de Início , Cromatografia Líquida de Alta Pressão , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias de Mama Triplo Negativas/metabolismoRESUMO
We report a 3 month old boy with tetraploidy, found in peripheral blood and skin fibroblast cultures, with severely delayed growth and neurodevelopment, and with a cleft lip; these findings have not been described before. This report brings to seven the total number of liveborn infants with a 92,XXYY karyotype.
Assuntos
Anormalidades Múltiplas/genética , Poliploidia , Fenda Labial/genética , Transtornos do Crescimento/genética , Humanos , Lactente , MasculinoRESUMO
A girl aged 4 years 3 months with sporadic unilateral Wilms' tumor associated with Wiedemann-Beckwith syndrome, but without aniridia, was found to have a t(X;20) in the tumor cells. Karyotypes of peripheral blood of the patient and her parents were normal. This translocation was confined to the tumor and not been previously reported either in nephroblastoma or any other neoplastic processes. Although there is no microscopic deletion on chromosome 11 and catalase activity was not decreased, we cannot rule out the possibility of a point mutation or a submicroscopic deletion.
Assuntos
Síndrome de Beckwith-Wiedemann/genética , Cromossomos Humanos Par 20 , Neoplasias Renais/genética , Translocação Genética , Tumor de Wilms/genética , Cromossomo X , Pré-Escolar , Feminino , Humanos , CariotipagemRESUMO
Five children, three males and two females were found to have a short arm deletion of chromosome 18. Four of them display some of the typical features of this syndrome: microcephaly, round face, hypertelorism, broad-based nose, "carp-mouth", microrethrognathia, pterygium colli, dysplastic and low set ears, clinodactily, failure to grow, muscular hypotony and mental retardation. Different hypotheses are discussed in order to explain the variable phenotypical expression of the 18 p-syndrome.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/genética , Deleção Cromossômica , Cromossomos Humanos Par 18/ultraestrutura , Deficiência Intelectual/genética , Agamaglobulinemia/genética , Criança , Pré-Escolar , Aberrações Cromossômicas/patologia , Transtornos Cromossômicos , Face/anormalidades , Feminino , Transtornos do Crescimento/genética , Humanos , Deficiência de IgA , Lactente , Recém-Nascido , Masculino , Linhagem , SíndromeAssuntos
Síndrome de Klinefelter/patologia , Células Intersticiais do Testículo/ultraestrutura , Adulto , Biópsia , Retículo Endoplasmático/ultraestrutura , Humanos , Corpos de Inclusão/ultraestrutura , Junções Intercelulares/ultraestrutura , Cariotipagem , Células Intersticiais do Testículo/análise , Lipídeos/análise , Lisossomos/ultraestrutura , Masculino , Microscopia Eletrônica , Mitocôndrias/ultraestrutura , Testículo/patologiaRESUMO
This paper describes a case of Klinefelter's syndrome with 48,XXYY. Patient had mental retardation and dysmorfic face. Although mental retardation may be recognized early in life, it is difficult to establish a clinical diagnosis of Klinefelter's syndrome before puberty when small testes, gynecomastia and other phisical stigmata may become apparent.
Assuntos
Síndrome de Klinefelter/diagnóstico , Criança , Dermatoglifia , Humanos , Cariotipagem , MasculinoRESUMO
A case of Dyschondrosteosis associated with Turner's syndrome is presented. There is no evidence of an autosomal dominant inheritance. The patient shows the typical clinical and radiological aspects of this disease, with severe intensity. Mental retardation is also important.