Increased frequency of X-bearing sperm in males from an infertility clinic: analysis by two-color fluorescence in situ hybridization.

Semen samples from 34 men visiting the Lübeck infertility clinic were investigated using a two-color FISH method to determine the ratio of X- and Y-bearing sperm. The overall ratio was significantly shifted to a preponderance of X-containing sperm. A statistical comparison with seven reports from the literature which included 53 normal probands demonstrated in our patients a significant tendency of a preponderance of X-bearing sperm and significantly less Y-bearing sperm. Furthermore, the Lübeck sperm samples are remarkably more heterogeneous in respect to their variability of X- and Y-bearing spermatozoa than in the other mentioned studies with normal probands. These phenomena have to be evaluated in further studies on groups of infertile males showing similar infertility histories.

Fluorescence in situ hybridization studies on breast tumor samples for distinguishing between different subsets of breast cancer.

OBJECTIVES: To evaluate fluorescence in situ hybridization for distinguishing between malignant and benign breast tumors and determining genetic subgroups of breast cancers. STUDY DESIGN: Touch preparations from 94 surgically removed breast tumors (17 benign and 77 malignant) were hybridized with a DNA probe specific for centromeric DNA sequences of chromosome 1. Twenty samples were additionally hybridized with a chromosome 9-specific probe. RESULTS: We investigated the heterogeneity of the cell populations on the basis of the number of signals per nucleus. All benign tumors showed two signals per nucleus. In contrast, carcinomas revealed a broad spectrum of hybridization patterns. Some showed almost exclusively two signals per nucleus, and others exceeded four signals. CONCLUSION: The hybridization patterns of individual tumors can be used for defining different subsets of breast cancer. The results may have prognostic impact, leading to "molecular-cytogenetic grading" of breast cancer.

Trisomy 8 and 18 as frequent clonal and single-cell aberrations in 185 primary breast carcinomas.

For cytogenetic investigations short-term cultures of 185 breast carcinomas (135 invasive ductal, 21 invasive lobular, 12 invasive ductal with intraductal components, seven heterogeneous, six intraductal, four invasive ductal and lobular) were prepared. Cytogenetic examinations revealed clonal abnormalities in 39 cases with a predominance of simple numerical chromosome changes, i.e., trisomies of chromosomes 7, 8, and 18. One hundred forty-six tumors did not show clonal abnormalities, but single-cell aberrations other than monosomies occurred in 79 of these tumors. Compared to cells of epithelial hyperplasia of the breast, amniotic fluid cells, and cells from pleomorphic adenomas cultivated using the same medium, the frequency of single-cell trisomies was significantly higher. Trisomy 8 was not only found as a clonal aberration in 10 cases but was also the most frequent non-clonal aberration. Trisomy 7 and 18 were also frequent clonal as well as non-clonal cytogenetic deviations.

Fibroadenoma of the breast showing a translocation (6;14), a ring chromosome and two markers involving parts of chromosome 11.

The cytogenetic findings of a recurrent fibroadenoma of a 25-year-old woman are reported. Of 58 metaphases karyotyped after G-banding, 27 showed an apparently normal karyotype and 31 the karyotype 48,XX,del(6)(q21),r(11)(?) + der(11)x2,der(14)t(6;14)(q21;q32). By fluorescence in situ hybridization studies using a chromosome 11 specific painting probe, we were able to show that the two marker chromosomes and the ring contained chromosome 11 DNA.

Trisomy 8 as a recurrent clonal abnormality in breast cancer?

The results of cytogenetic investigations on one benign and 15 malignant breast tumors are described. Trisomy 7, 8, 18, and 21 and monosomy X occurred as clonal numerical aberrations, and inv(7)(q21q31) and t(4;12)(q21;p13) occurred as clonal structural aberrations. Only trisomy 8 was a recurrent karyotypic abnormality, however. Thus, we assumed that trisomy 8 as an early genetic change characterizes a subtype of ductal breast carcinomas.

[Computer tomography diagnosis of space-occupying lesions in the area of the base of the skull]. / Computertomographische Diagnostik von Raumforderungen im Bereich der Schädelbasis.

119 CT findings of examinations of the base of the skull conducted over a period of 52 months in 63 patients, were checked for their informative value. The CT findings were compared with clinical signs and symptoms and--if available--with findings from operations, biopsies and/or postmortem examinations (55 of 63 patients). For 42 CT findings, a total of 88 comparable findings obtained via conventional x-ray methods were available. This comparison showed a 66% superiority of CT over conventional radiography. The results point to a considerable superiority of CT both in the imaging of structures and in the detection of bony changes in the region of the base of the skull.