RESUMO
We present the clinical, roentgenographic, and histologic abnormalities in a stillborn infant with Blomstrand osteochondrodysplasia. Parental consanguinity and multiplex occurrence in the patients' sibship confirm the hypothesis of autosomal recessive inheritance of this monogenic lethal entity. The unknown genetic defect interferes severely with skeletal growth through lack of chondrocyte multiplication and apparent uncoupling of the processes of enchondral ossification and skeletal growth.
Assuntos
Osteocondrodisplasias/genética , Adulto , Consanguinidade , Feminino , Morte Fetal , Genes Letais , Genes Recessivos , Humanos , Recém-Nascido , Fígado/patologia , Masculino , Núcleo Familiar , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/patologia , Linhagem , RadiografiaRESUMO
A series of 50 Stage I and II, Grade III ductal carcinomas of the breast was characterized by DNA flow cytometry and further analyzed with a monoclonal antibody for carcinoembryonic antigen (CEA). The antigen was detected with the indirect immunoperoxidase technique on paraffin sections and on cytologic smears of the cell suspensions that were used for flow cytometric DNA analysis. A significant higher incidence of CEA-positivity in cytologic smears and tissue sections was found in DNA-diploid tumors (13/18 and 12/18, respectively) than in DNA-aneuploid tumors (13/22 and 12/32, respectively) (P less than 0.05 and P less than 0.025, respectively).
Assuntos
Neoplasias da Mama/genética , Antígeno Carcinoembrionário/análise , Carcinoma Intraductal não Infiltrante/genética , DNA de Neoplasias/análise , Neoplasias da Mama/imunologia , Neoplasias da Mama/patologia , Carcinoma Intraductal não Infiltrante/imunologia , Carcinoma Intraductal não Infiltrante/patologia , Citometria de Fluxo , Humanos , Técnicas Imunoenzimáticas , Pessoa de Meia-Idade , Estadiamento de Neoplasias , PloidiasRESUMO
In this prospective follow-up study the prognostic value of the tumor prostacyclin/thromboxane ratio in human breast carcinoma was investigated. The stable degradation products of prostacyclin and thromboxane (6-keto-PGF1 alpha and TXB2, respectively), were measured by radio-immunoassay in homogenized primary tumours from 29 patients with primary non-metastatic breast cancer. The median follow-up was 43 months (range 24-58 months). Patients with recurrent disease or patients who died of breast cancer had a significantly higher 6-keto-PGF1 alpha/TXB2 ratio than the disease-free survivors (p = 0.018 and p = 0.047, respectively). There was no significant difference in the 6-keto-PGF1 alpha and TXB2 levels. These data indicate that the prostacyclin/thromboxane balance in the tumour might be a prognostic factor in breast cancer. Prostanoid may contribute to metastasis in breast cancer, but the problem is complex because the different prostaglandins have numerous actions that may produce both undesirable and desirable effects.
Assuntos
6-Cetoprostaglandina F1 alfa/análise , Neoplasias da Mama/química , Epoprostenol/análise , Tromboxanos/análise , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/mortalidade , Neoplasias da Mama/patologia , Humanos , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , RadioimunoensaioRESUMO
DNA flow cytometry was used to study the presence of DNA aneuploid cell populations in macroscopically normal glandular tissue in mastectomy specimens from 30 patients with breast cancer. In the 13 patients with a DNA diploid primary tumor, no DNA aneuploidy could be found in any of the 39 distant specimens assessed. However, DNA aneuploid cell populations were demonstrated in four of the 17 (23%) patients with a primary DNA aneuploid carcinoma and in seven out of 54 (13%) distant tissue samples (P = 0.02). In all cases the DNA index of the DNA aneuploid cells found in the distant samples was identical to that of the primary tumor. The replicate aneuploid DNA indices and histologic controls taken in parallel very strongly suggest that these distant DNA aneuploid cell populations are metastases.
Assuntos
Aneuploidia , Neoplasias da Mama/patologia , Mama/citologia , DNA de Neoplasias/análise , Idoso , Mama/patologia , Neoplasias da Mama/genética , Feminino , Citometria de Fluxo , Humanos , Mastectomia , Pessoa de Meia-IdadeRESUMO
Prostaglandin F2 alpha (PGF2 alpha) concentrations were measured by radioimmunoassay in homogenised primary tumours from 57 patients with breast cancer. These patients were followed up from 60 to 78 months (median 63 months) after surgery and PGF2 alpha concentrations were related prospectively to metastatic spread and survival. The amounts of PGF2 alpha varied greatly in the different tumours (range 0-90 ng/mg protein), but no significant association was found between PGF2 alpha concentrations and disease free survival, time of relapse, site of recurrence, or overall survival. It therefore seems unlikely that measurement of PGF2 alpha in breast carcinoma is important in the prognosis of the disease.
