ABSTRACT
Oncocytic carcinoma is a rare tumor of the parotid gland. An additional case, characterized by an exceptional localization in the accessory lobe of the parotid gland, never reported to date in the literature, is described. The clinical and histologic difficulties in relationship to the diagnosis of a midcheek mass consisting of an unusual tumor are emphasized.
Subject(s)
Adenocarcinoma/diagnosis , Parotid Neoplasms/diagnosis , Adenocarcinoma/secondary , Aged , Biopsy, Fine-Needle , Cheek/pathology , Diagnosis, Differential , Follow-Up Studies , Humans , Lymphatic Metastasis/pathology , Male , Masseter Muscle/pathology , Oxyphil Cells/pathology , Tomography, X-Ray ComputedABSTRACT
Aberrant promoter methylation of several known or putative tumor suppressor genes occurs frequently during carcinogenesis, and this epigenetic change has been considered as a potential molecular marker for cancer. We examined the methylation status of nine genes (APC, CDH1, CTNNB1, TIMP3, ESR1, GSTP1, MGMT, THBS1, and TMS1), by quantitative methylation specific PCR. Synchronous preinvasive lesions (atypical ductal hyperplasia and/or ductal carcinoma in situ) and invasive ductal breast carcinoma from 52 patients, together with pure lesions from 24 patients and 12 normal tissues paired to tumor and 20 normal breast distant from tumor were analyzed. Aberrant promoter methylation was detected in both preinvasive and invasive lesions for genes APC, CDH1, CTNNB1, TIMP3, ESR1, and GSTP1. However, hierarchical mixed model and Generalized Estimating Equations model analyses showed that only APC, CDH1, and CTNNB1 promoter regions showed a higher frequency and methylation levels in pathologic samples when compared with normal breast. Whereas APC and CTNNB1 did not show differences in methylation levels or frequencies, CDH1 showed higher methylation levels in invasive tumors as compared with preinvasive lesions (P < 0.04, Mann-Whitney test with permutation correction). The analysis of APC, CDH1, and CTNNB1 methylation status was able to distinguish between normal and pathologic samples with a sensitivity of 67% (95% confidence interval, 60-71%) and a specificity of 75% (95% confidence interval, 69-81%). Our data point to the direct involvement of APC, CDH1, and CTNNB1 promoter methylation in the early stages of breast cancer progression and suggest that they may represent a useful tool for the detection of tumor cells in clinical specimens.
Subject(s)
Breast Neoplasms/genetics , Carcinoma, Ductal, Breast/genetics , CpG Islands , DNA Methylation , Adult , Breast Neoplasms/pathology , Carcinoma, Ductal, Breast/pathology , Disease Progression , Female , Humans , Middle Aged , Polymerase Chain Reaction , Promoter Regions, GeneticABSTRACT
PURPOSE: In an effort to additionally determine the global patterns of CpG island hypermethylation in sporadic breast cancer, we searched for aberrant promoter methylation at 10 gene loci in 54 primary breast cancer and 10 breast benign lesions. EXPERIMENTAL DESIGN: Genomic DNA sodium bisulfate converted from benign and malignant tissues was used as template in methyl-specific PCR for BRCA1, p16, ESR1, GSTP1, TRbeta1, RARbeta2, HIC1, APC, CCND2, and CDH1 genes. RESULTS: The majority of the breast cancer (85%) showed aberrant methylation in at least 1 of the loci tested with half of them displaying 3 or more methylated genes. The highest frequency of aberrant promoter methylation was found for HIC1 (48%) followed by ESR1 (46%), and CDH1 (39%). Similar methylation frequencies were detected for breast benign lesions with the exception of the CDH1 gene (P = 0.02). The analysis of methylation distribution indicates a statistically significant association between methylation of the ESR1 promoter, and methylation at CDH1, TRbeta1, GSTP1, and CCND2 loci (P < 0.03). Methylated status of the BRCA1 promoter was inversely correlated with methylation at the RARbeta2 locus (P < 0.03). CONCLUSIONS: Our results suggest a nonrandom distribution for promoter hypermethylation in sporadic breast cancer, with tumor subsets characterized by aberrant methylation of specific cancer-related genes. These breast cancer subgroups may represent separate biological entities with potential differences in sensitivity to therapy, occurrence of metastasis, and overall prognosis.
Subject(s)
Breast Neoplasms/genetics , DNA Methylation , Genes, Tumor Suppressor , Promoter Regions, Genetic/genetics , Analysis of Variance , Breast Neoplasms/pathology , DNA, Neoplasm/genetics , DNA, Neoplasm/isolation & purification , Dinucleoside Phosphates/genetics , Female , Humans , Polymerase Chain ReactionABSTRACT
Peritoneal multicystic mesothelioma is a very rare clinical condition. This neoplastic variant has a high incidence of recurrence after surgical resection. It usually occurs in middle-aged women with a previous history of gynaecological surgery and presents with the symptoms of an abdominal or pelvic mass. The case reported here is that of a 58-year-old woman, characterised first by a left liver-lobe tumour and then by a subsequent episode of emission of cystic matter from an abdominal fistula. The relevant literature is reviewed and the clinical aspects and treatment of this disease are discussed.
