RESUMO
Wilms' tumour (WT) is the most common solid tumour of childhood. The molecular signalling pathways determining the origin and behaviour of WT are very complex and several genes in several loci may participate. This review tries to briefly compile recent works on the histology and on the molecular alterations that promote the genesis, development and behaviour of WT. Some molecular alterations seem to be associated with specific histological types and particular clinical outcomes, suggesting that they might be utilised to determine the prognosis and to identify poor prognostic subgroups that can be targeted for more individualised treatments (AU)
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Assuntos
Humanos , Masculino , Feminino , Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Genes do Tumor de Wilms , Neoplasias Renais/genética , Tumor de Wilms/diagnóstico , Tumor de Wilms/genética , Neoplasias Renais/patologia , Tumor de Wilms/patologiaRESUMO
Hereditary breast cancer arising in carriers of mutations in the BRCA1 and BRCA2 genes differs from sporadic breast cancer and from non-BRCA1/2 familial breast carcinomas. Most BRCA1 carcinomas have the basal-like phenotype and are high-grade, highly proliferating, estrogen receptor-negative and HER2-negative breast carcinomas, characterized by the expression of basal markers such as basal keratins, P-cadherin and epidermal growth factor receptor. BRCA1 carcinomas frequently carry p53 mutations. The basal-like phenotype is only occasionally found in BRCA2 carcinomas, which tend to be estrogen and progesterone receptor positive. BRCA1 and BRCA2 loss of heterozygosity is found in almost all BRCA1 and BRCA2 carcinomas, respectively. Both genotypes have a low frequency of HER2 expression/amplification. In addition, comparative genomic hybridization and array expression studies have revealed differences in chromosomal gains and losses as well as expression patterns between genotypes. Several studies have shown that hereditary carcinomas that are not attributable to BRCA1/2 mutations are heterogeneous and have phenotypic similarities to BRCA2 tumors. A small group of cases are secondary to mutations in other breast cancer susceptibility genes, such as p53, PTEN or CDH1. As a result of the low frequency of breast carcinomas attributable to mutations in these genes, it is very difficult to establish a specific phenotype for each genotype, other than the association of lobular carcinomas with CDH1 germline mutations. The pathological and molecular features of hereditary breast cancer can drive specific treatments and influence the process of mutation screening.
Assuntos
Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Predisposição Genética para Doença , Proteína BRCA1/genética , Proteína BRCA2/genética , Feminino , Humanos , Mutação/genéticaAssuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Biomarcadores Tumorais/genética , Neoplasias Ósseas/diagnóstico , Neuroblastoma/diagnóstico , Sarcoma de Ewing/diagnóstico , Tirosina 3-Mono-Oxigenase/genética , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/patologia , Biomarcadores Tumorais/análise , Exame de Medula Óssea , Neoplasias Ósseas/química , Neoplasias Ósseas/genética , Neoplasias Ósseas/secundário , Criança , Diagnóstico Diferencial , Humanos , Masculino , Neuroblastoma/química , Neuroblastoma/genética , Neuroblastoma/patologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos , Tomografia Computadorizada por Raios X , Tirosina 3-Mono-Oxigenase/análiseRESUMO
BACKGROUND: Diffuse uterine leiomyomatosis is a rare, benign entity and approximately 30 cases have been described previously. CASE: A 42-year-old woman who complained of abdominal pain had a pelvic ultrasound scan showing a uterine mass. During the operation, the surgeon observed that both ovaries, the broad ligament, and the pelvis contained various nodules of striking size. On sectioning, uterus and ovaries contained multiple nodules of elastic consistency; microscopically, all consisted of benign smooth muscle tissue. CONCLUSION: Leiomyomatosis may exhibit concomitant parametrial, pelvic, and bilateral ovarian involvement.
Assuntos
Leiomiomatose/diagnóstico , Neoplasias Ovarianas/diagnóstico , Neoplasias Pélvicas/diagnóstico , Neoplasias Uterinas/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Leiomiomatose/diagnóstico por imagem , Leiomiomatose/patologia , Leiomiomatose/cirurgia , Neoplasias Ovarianas/diagnóstico por imagem , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/cirurgia , Neoplasias Pélvicas/diagnóstico por imagem , Neoplasias Pélvicas/patologia , Neoplasias Pélvicas/cirurgia , Ultrassonografia , Neoplasias Uterinas/diagnóstico por imagem , Neoplasias Uterinas/patologia , Neoplasias Uterinas/cirurgiaRESUMO
OBJECTIVE: According to current concepts, multilocular renal cysts are the most benign type of embryonary tumors by contrast to wilm's tumor. Our experience with multilocular renal cyst is presented herein. METHODS: 12 patients (4 boys, 6 adult females and two males) were diagnosed and treated for multilocular renal cyst. One of the adult male patients had an adenocarcinoma located on one of the cysts. Ten patients underwent nephrectomy and two patients were treated by conservative surgery. RESULTS: At 9 years' mean follow-up, no tumor recurrence has been observed. CONCLUSIONS: In the adult patient, all segmental, large and multiloculated cystic masses with a homogeneous content that do not compromise the rest of the parenchyma or adjacent organs except by compression, are suggestive of a multilocular cyst. Conservative surgery is the most reasonable therapeutic option if the foregoing is suspected. This condition has a very good long-term prognosis.
