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The aim of the study was to explore possible differences in DNA flow cytometric characteristics, particularly differences in distribution of DNA indices of aneuploid clones, between male and female breast cancers. We retrospectively analyzed 31 male breast cancers. Clinicopathological and DNA flow cytometric characteristics of male breast cancers (patient age, tumor size, histological type, histological grade, axillary lymph node status, hormone receptor expression, ploidy, and S-phase fraction) were compared with that of the control group of matched female breast cancers. Hormone receptors and HER-2/neu were investigated immunohistochemically with additional chromogenic in situ hybridization (CISH) analysis of HER-2/neu 2+ cases. Ploidy and S-phase fraction were determined by DNA flow cytometry. Comparison with clinicopathological features was made using χ 2 and t test. Aneuploidy was found in 78 % of the cases, with the predomination of hypotetraploid clones (39 %), followed by tetraploid (23 %) and hypertetraploid clones (16 %). We found higher frequency of hypertetraploidy in male breast cancers (16 and 6 %, respectively) than in the control group of matched female breast cancers. Clinicopathological features of hypertetraploid male breast cancers did not differ from that of non-hypertetraploid cancers. Higher frequency of hypertetraploidy among male breast cancers might indicate different cytogenetical evolutionary pathway between male and female breast cancer.

Several cytotypes (polyploids and aneuploids) have been reported in Lepisorus thunbergianus. The relationships between these cytotypes within the species remain poorly understood. We studied populations in an area where various cytotypes of L. thunbergianus as well as two diploid species, L. angustus and L. onoei, candidate parental species that may be involved in allopolyploid origins of L. thunbergianus polyploids, occur. We determined the ploidy levels of sampled materials by direct chromosome counting and flow cytometry. We elucidated the origins of L. thunbergianus polyploids by analyzing allozyme polymorphisms, and in addition, we examined the occurrence of segmental allopolyploidy by comparing allelic variation between polyploids and their parental diploids. Six cytotypes, i.e. one diploid (2n = 50), two triploid (2n = 75 and 76) and three tetraploid (2n = 100, 101, and 102) cytotypes, were observed in L. thunbergianus, and the two diploid species, L. angustus (2n =52) and L. onoei (2n =50) were confirmed to include a single cytotype each. Allozyme analyses indicated that the tetraploid (2n =100) and hypertetraploid (2n = 102) of L. thunbergianus originated by allopolyploidy between diploid L. thunbergianus (2n = 50) and diploid L. angustus (2n = 52), since the polyploids shared alleles with these two diploids that were unique to each diploid. The allozyme patterns excluded the possibility that L. thunbergianus polyploids originated from L. onoei. The unbalanced heterozygosity and homozygosity found in the tetraploid and the hypertetraploid of L. thunbergianus indicated their segmental allopolyploidy.

We present a 16 years old female with a chromosomal mixoploidy and multiple phenotypic anomalies. Peripheral blood G-band karyotype was 47,XXX and her skin fibroblast karyotype revealed a mosaic with a 47,XXX cell line in 88% of metaphases and a 94,XXXXXX cell line in 12% of metaphases, consistent with a hypertetraploidy. The most prominent clinical signs were: short stature, left upper limb asymmetry, senile-like appearance, generalized hypertrichosis, and small hands and feet. Radiological examination showed bone dysplasia. The result of molecular studies demonstrated that the patient inherited the two X chromosomes from the mother and one from the father, indicating that her 47,XXX trisomy resulted from an oogenesis error in the first meiotic division. The 94,XXXXXX cell line was likely the result of a cytokinesis error. To our knowledge, this is the first documented patient with a trisomy and a hypertetraploidy.

AIM: Breast tumours with a DNA content higher than 4N (hypertetraploidy) are not well characterised. The aim of this study was to evaluate the clinical and biological characteristics of 51 hypertetraploid breast carcinomas selected from a series of 860 consecutive cases analysed by flow cytometry. METHODS: The clinicopathological characteristics of the hypertetraploid group were compared with those of a control group of 138 non-hypertetraploid breast carcinomas. Breast tumours from patients submitted to surgery as primary therapeutic approach (15 hypertetraploid and the 138 non-hypertetraploid) were TNM staged and classified according to the histological type and grade. The remaining 36 patients had advanced neoplastic disease at presentation and were classified by cytological criteria only. DNA flow cytometric analysis was performed on fresh-frozen samples stained with propidium iodide. Hormone receptors were analysed by immunocytochemistry. RESULTS: The incidence of hypertetraploid breast tumours was 5.9% (51 of 860). All the patients were women and the mean age at diagnosis was 65 years. There was a family history of breast cancer in 21.6% of cases. In the group of operated patients, 33.3% had pT3 tumours and 53.3% had axillary lymph node metastases. All but one tumour were invasive ductal carcinomas; the remaining was an invasive papillary carcinoma. Ten (66.7%) tumours were classified as poorly differentiated carcinomas. Oestrogen and progesterone receptors were negative in 33 (64.7%) and 38 (74.5%) tumours, respectively. At last follow up, 35 (72.9%) patients were alive, while 13 (27.1%) died of disease within three years of diagnosis. Statistical comparison of the clinicopathological features of hypertetraploid v non-hypertetraploid breast carcinomas yielded a significant difference in tumour size (p < 0.001), histological grade (p < 0.001), hormone receptor status (p < 0.001), and overall survival (p < 0.001) between the two groups. CONCLUSION: Flow cytometric DNA hypertetraploidy is related to clinicopathological features of breast cancer usually associated with unfavourable prognosis.