ABSTRACT
We report the results of detailed clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. Classical cytogenetics and fluorescence in situ hybridization (FISH) analysis with the chromosome 18 painting probe identified five non-mosaic and two complex mosaic 46,XX,dup(18)(p11.2)/47,XX,dup(18)(p11.2),+r(18) and 46,XX,dup(18)(p11.32)/47,XX,dup(18)(p11.32),+r(18) cases. FISH analysis was performed for precise characterization of the chromosome 18 breakpoints using chromosome 18-specific short-arm paint, centromeric, subtelomeric, and a panel of fifteen Alu- and DOP-PCR YAC probes. The breakpoints were assessed with an average resolution of approximately 2.2 Mb. In all r(18) chromosomes, the 18q terminal deletions ranging from 18q21.2 to 18q22.3 ( approximately 35 and 9 Mb, respectively) were found, whereas only in four cases could the loss of 18p material be demonstrated. In two cases the dup(18) chromosomes were identified as inv dup(18)(qter-->p11.32::q21.3-->qter) and inv dup(18)(qter-->p11.32::p11.32-->p11.1: :q21.3-->qter)pat, with no evidence of an 18p deletion. A novel inter-intrachromatid mechanism of formation of duplications and ring chromosomes is proposed. Although the effect of "ring instability syndrome" cannot be excluded, the phenotypes of our patients with characteristic features of 18q- and 18p- syndromes are compared and correlated with the analyzed genotypes. It has been observed that a short neck with absence of cardiac anomalies may be related to the deletion of the 18p material from the r(18) chromosome.
Subject(s)
Chromosomes, Human, Pair 18/genetics , Ring Chromosomes , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Child , Child, Preschool , Chromosome Banding , Cytogenetic Analysis , Female , Growth Disorders , Humans , In Situ Hybridization, Fluorescence , Intellectual Disability , Male , Psychomotor DisordersABSTRACT
We report a case of papillary renal cell carcinoma with the karyotype 43-46,X,t(X;1) (p11.2;q21)[5]/80-88,idemx2[5]/45-86,idem,add(5)(p15.1)[2]. This is the second case with such a translocation documented in papillary renal cell carcinoma in a young female.
Subject(s)
Carcinoma, Renal Cell/genetics , Chromosomes, Human, Pair 1 , Kidney Neoplasms/genetics , Translocation, Genetic , X Chromosome , Adolescent , Female , Humans , KaryotypingABSTRACT
Increase of gene activity of the proto-oncogene erbB2 which codes for the transmembrane kinase receptor p185erbB2 has been observed in > 30% of female breast and gynecological carcinomas. This overexpression was shown to be correlated with poor prognosis. We have investigated 38 samples of carcinomas of the male breast for p185erbB2 expression by using tumor thin sections and a monoclonal antibody. The immunostaining was compared to clinical data to assess a possible prognostic value of this parameter. Although most cases were immunopositive (36/38), no correlation to tumor grading and survival spans was notable. Therefore, erbB2 activity fails to add a new prognostic parameter in male breast carcinomas.
Subject(s)
Biomarkers, Tumor/analysis , Breast Neoplasms/pathology , Carcinoma, Ductal, Breast/pathology , ErbB Receptors/biosynthesis , Proto-Oncogene Proteins/biosynthesis , Proto-Oncogenes , Breast Neoplasms/metabolism , Breast Neoplasms/surgery , Carcinoma, Ductal, Breast/metabolism , Carcinoma, Ductal, Breast/surgery , ErbB Receptors/analysis , Female , Gene Expression , Humans , Immunohistochemistry , Male , Neoplasm Staging , Prognosis , Proto-Oncogene Mas , Proto-Oncogene Proteins/analysis , Receptor, ErbB-2 , Receptors, Cell Surface/analysis , Receptors, Cell Surface/biosynthesisABSTRACT
BACKGROUND: The estrogen-inducible pS2 gene, originally isolated from a breast cancer cell line, is correlated with hormone-dependent female breast tumors and its expression is associated with longer overall and disease-free survival. METHODS: The authors have investigated 38 samples of carcinomas of the male breast for pS2 expression by using a monoclonal antibody. The immunostaining was compared with clinical data, in particular, to the progesterone receptor status, to assess a possible prognostic value of this parameter. RESULTS: Although most cases (27 of 38) were immunopositive (i.e., above the 5th percentile of immunoreactive cells), no correlation with tumor grade and survival was notable. CONCLUSIONS: Therefore, on the contrary to the situation in female breast cancer, pS2 activity failed to constitute a new prognostic parameter in male breast carcinomas.