RESUMO
The aim of the study is to identify treatments which predict survival for women with a BRCA1 mutation, including oophorectomy and chemotherapy. 476 women with stage I to stage III breast cancer who carried a BRCA1 mutation were followed from diagnosis until April 2015. Information on treatment was obtained from chart review and patient questionnaires. Dates of death were obtained from the Poland vital statistics registry. Survival curves were compared for different subgroups according to treatment received. Predictors of overall survival were determined using the Cox proportional hazards model. The ten-year overall survival was 78.3 % (95 % CI 74.2-82.6 %) and the ten-year breast cancer-specific survival was 84.2 % (95 % CI 80.5-88.0 %). Sixty-two patients died of breast cancer, 14 patients died of ovarian cancer, and 2 patients died of peritoneal cancer. Oophorectomy was associated with a significant reduction in all-cause mortality in the entire cohort (adjusted HR = 0.41; 95 % CI 0.24-0.69; p = 0.0008) and in breast cancer-specific mortality among ER-negative breast cancer patients (HR = 0.44; 95 % CI 0.22-0.89; p = 0.02). Among women with breast cancer and a BRCA1 mutation, survival is greatly improved by oophorectomy due to the prevention of deaths from both breast and ovarian cancer.
Assuntos
Proteína BRCA1/genética , Neoplasias da Mama/mortalidade , Neoplasias Ovarianas/mortalidade , Ovariectomia/métodos , Adulto , Idoso , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/genética , Tratamento Farmacológico , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/cirurgia , Modelos de Riscos Proporcionais , Fatores de Risco , Análise de Sobrevida , Resultado do Tratamento , Adulto JovemRESUMO
PURPOSE: There have been no studies to date which look at the relative effectiveness of different regimens of chemotherapy in women who have breast cancer and who carry a BRCA1 germ-line mutation. We wished to compare rates of response to neo-adjuvant chemotherapy in BRCA1 mutation carriers and non-carrier controls. EXPERIMENTAL DESIGN: From a registry of 3,479 patients, we identified 44 Polish women who carried a BRCA1 founder mutation and who had been treated with neo-adjuvant chemotherapy for breast cancer, and 41 age- and hospital-matched controls. RESULTS: 35 of the 44 BRCA1 mutation carriers (80%) experienced a partial or complete response to neo-adjuvant chemotherapy, compared to 39 of the 41 (95%) non-carriers (P=0.05). In the hereditary subgroup, response rates differed depending on whether or not a taxane (docetaxel) was given. Six of the 15 BRCA1 carrier women given docetaxel with doxorubicin responded (complete or partial), compared to 29 of 29 given other (DNA-damaging) therapies (P=0.001). Among the non-carriers, the rates of response to the two categories of chemotherapy were similar. CONCLUSIONS: Breast cancers among BRCA1 carriers frequently do not exhibit sensitivity to docetaxel in the neo-adjuvant setting. It is likely that normal BRCA1 is required for clinical response to mitotic spindle poisons.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Proteína BRCA1/genética , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/genética , Regulação Neoplásica da Expressão Gênica , Adulto , Antibióticos Antineoplásicos/administração & dosagem , Antineoplásicos Fitogênicos/administração & dosagem , Neoplasias da Mama/patologia , Estudos de Casos e Controles , Quimioterapia Adjuvante , Docetaxel , Doxorrubicina/administração & dosagem , Resistencia a Medicamentos Antineoplásicos/genética , Feminino , Mutação em Linhagem Germinativa , Humanos , Pessoa de Meia-Idade , Terapia Neoadjuvante , Seleção de Pacientes , Polônia , Sistema de Registros , Taxoides/administração & dosagem , Resultado do Tratamento , Moduladores de Tubulina/administração & dosagemRESUMO
We identified 4316 unselected incident cases of early-onset breast cancers (<51 ears of age at diagnosis) in 18 Polish hospitals between 1996 and 2003. We were able to obtain a blood sample for DNA analysis from 3472 of these (80.4%). All cases were tested for the presence of three founder mutations in BRCA1. The proportion of cases with a BRCA1 mutation was 5.7%. The hereditary proportions were higher than this for women with breast cancer diagnosed before age 40 (9%), for women with cancer of medullary or atypical medullary histology (28%), for those with bilateral cancer (29%) or with a family history of breast or ovarian cancer (13%). It is reasonable to offer genetic testing to women with early-onset breast cancer in Poland.
Assuntos
Proteína BRCA1/biossíntese , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Regulação Neoplásica da Expressão Gênica , Genes BRCA1 , Predisposição Genética para Doença , Mutação , Adulto , Neoplasias da Mama/metabolismo , Análise Mutacional de DNA , Feminino , Humanos , Pessoa de Meia-Idade , Modelos Estatísticos , Polônia , Estudos ProspectivosRESUMO
The purpose of the study was a comparison of clinical and pathological assessment of cervical lymph nodes metastases in advanced carcinoma of larynx and the hypopharynx. The outspread, size and number of the nodes metastases to the particular regions of the neck was taken into analysis. The differences and occurrence in clinical and pathological assessment was pointed out.
Assuntos
Neoplasias Laríngeas/patologia , Linfonodos/patologia , Neoplasias Faríngeas/patologia , Humanos , Neoplasias Laríngeas/cirurgia , Metástase Linfática , Pescoço , Esvaziamento Cervical , Estadiamento de Neoplasias , Neoplasias Faríngeas/cirurgiaRESUMO
Two sisters are reported treated at various times for thyroid medullary carcinoma. In one of them, treated later, right adrenal tumour coexisted suggesting a classical picture of the syndrome of multiglandular endocrine adenomatosis type 2a. Histological examination of the adrenal tumour showed presence of metastasis of medullary thyroid carcinoma, that is atypical pattern of this neoplasm. In the light of these the authors stress the necessity of comprehensive diagnosis of thyroid tumours with particular stress laid on histological preoperative diagnosis. Indications are discussed to thyroid reoperation in patients in whom medullary thyroid carcinoma was diagnosed only in the resected goitre.
