Cytogenetic abnormalities and clinical stage in testicular nonseminomatous germ cell tumors.

To study the impact of chromosomal abnormalities on the clinical behavior of testicular nonseminomatous germ cell tumors (TNSGCTs), we compared the chromosomal constitution of primary tumors of patients who initially presented and remained without metastases to those with metastatic disease. Furthermore, the chromosomal pattern of primary TNSGCTs was compared to ploidy and the clinicopathologic risk factors histology and small-vessel invasion. The modal chromosome number and the ploidy were in agreement.

Cytogenetic analysis of epithelial renal-cell tumors: relationship with a new histopathological classification.

Renal-cell carcinomas (RCC) are clinically, histologically and cytogenetically very heterogeneous. The present histological WHO classification shows no clear correlation between histologic subtypes and specific chromosomal abnormalities. In 1986, a new classification was proposed by Thoenes and Störkel based on the cell type from which the tumor arises.

Significance of aneuploid stemlines in testicular nonseminomatous germ cell tumors.

Background: Hyperpentaploidy in testicular nonseminomatous germ cell tumors (TNSGCT) has been associated with progression of disease of patients who initially had TNSGCT in Stage I.

Methods: The authors used flow cytometry to investigate the relationship between ploidy and the clinical behavior in TNSGCT, focusing on hypertetraploid values (DNA index, > 2.00).

Cytogenetic findings in eleven gastric carcinomas.

We describe the results of the cytogenetic study of 10 primary adenocarcinomas of the stomach and one lymph node metastasis of a gastric adenocarcinoma after direct harvesting or short-term in vitro culture. All cases showed a variable number of numerical and/or structural clonal cytogenetic aberrations. Polysomy of chromosomes 2 and 20 were the most common numerical abnormalities.

Sublocalization of the synovial sarcoma-associated t(X;18) chromosomal breakpoint in Xp11.2 using cosmid cloning and fluorescence in situ hybridization.

In a previous study we localized the synovial sarcoma-associated t(X;18)(p11;q11) breakpoint within the ornithine aminotransferase-like 1 (OATL1) cluster on the X chromosome. This localization was delineated from both somatic cell hybrid and fluorescence in situ hybridization (FISH) analysis of patient material, using OAT-specific cDNA and YAC probes. Simultaneously, Knight et al.

Cosmetic tattooing as a treatment of port-wine stains.

Background: Medical treatment for port-wine stains frequently is cosmetically unsatisfactory. An alternative possibility is cosmetic medical tattooing.

Methods: By means of a traditional Japanese tattooing technique, five patients were treated in multiple sessions until the color of the lesion matched that of the surrounding skin.

Uniparental origin of i(12p) in human germ cell tumors.

We present molecular data to demonstrate that the isochromosome 12p, specific for human germ cell tumors (GCTs), is of uniparental origin. Eight GCT-derived cell lines, containing one or more copies of i(12p) and/or other 12p anomalies, were analyzed with different 12p-derived polymorphic markers. The results from Ma-90, a near-diploid cell line with only one i(12p) in addition to two copies of a normal chromosome 12, clearly show an allelic 12p ratio of approximately 3:1, indicating that both 12p arms are of identical parental origin.

Loss of heterozygosity at the short arm of chromosome 3 in renal-cell cancer correlates with the cytological tumour type.

A majority of renal-cell tumours retain heterozygosity at the short arm of chromosome 3. To investigate possible histopathological differences between tumours with and without such losses, we compared loss of heterozygosity data from 51 tumours with I histological and 2 different cytological classifications of renal-cell tumour. Using the cytological classification of Thoenes et al.

Interphase cytogenetics of carcinoma in situ of the testis. Numeric analysis of the chromosomes 1, 12 and 15.

Carcinoma in situ of the testis is the precursor of seminomas and nonseminomatous germ cell tumors of the adult testis. It is a frequent finding in the testicular parenchyma adjacent to seminoma and nonseminoma. Thus far no differences have been demonstrated between carcinoma in situ adjacent to seminoma and nonseminoma; morphology, immunohistochemistry and ploidy are similar.

Molecular cytogenetics of human germ cell tumours: i(12p) and related chromosomal anomalies.

Human testicular germ cell tumours (TGCTs) comprise a heterogeneous group of solid neoplasms. These tumours are characterized by a highly specific chromosomal anomaly, i.e.

Energy expenditure during walking in subjects with tibial rotationplasty, above-knee amputation, or hip disarticulation.

The surgical treatment of osteosarcoma with a tibial rotationplasty seems to offer functional advantages in comparison with an above-knee amputation. It has not been established whether the functional advantages are accompanied by a lower rate of energy expenditure during walking. In children with a tibial rotationplasty (n = 15), an above-knee amputation (n = 6), or a hip disarticulation (n = 5), energy expenditure was measured during treadmill walking at various walking velocities.

Serum lactate dehydrogenase isoenzyme 1 activity in patients with testicular germ cell tumors correlates with the total number of copies of the short arm of chromosome 12 in the tumor.

The aim of our study was to assess the relationship between the serum lactate dehydrogenase isoenzyme 1 (S-LDH-1) activity in patients with testicular germ cell tumors and the number of copies of the short arm of chromosome 12 (12p) present in tumor. Twenty-seven adult patients with measurable tumor lesions were studied. Twenty-five had three or more copies of chromosome 12 per cell in the tumors.

Cytogenetics of a case of cardiac myxoma.

The cytogenetic study of a case of cardiac myxoma revealed a 46,XY,der(7)t(7;17) (p21;p11),+der(10)t(10;?)(q22;?),+der(12)t(12;?)(p12;?),del(17)(p11) chromosomal pattern. This case adds a new example of chromosomal abnormalities in benign neoplasms.

Verification of isochromosome 12p and identification of other chromosome 12 aberrations in gonadal and extragonadal human germ cell tumors by bicolor double fluorescence in situ hybridization.

A diverse group of gonadal and extragonadal human germ cell tumors (GCT) and GCT-derived cell lines was examined for the presence of an i(12p) marker chromosome and/or other abnormalities involving chromosome 12, especially 12p, by bicolor double fluorescence in situ hybridization (FISH). For this purpose three probes, pBS-12, M28, and p alpha 12H8, were used, allowing specific identification of the entire chromosome 12, its short arm, and its pericentromeric region, respectively. The presence of one or more copies of a genuine i(12p) chromosome could be demonstrated in three GCT of the testis, in one ovarian GCT, in one dysgenetic GCT, and in one extragonadal intracranial GCT.

DNA ploidy and karyotype in recurrent and metastatic soft tissue sarcomas.

To study mechanisms involved in evolution of soft tissue sarcomas, we compared DNA ploidy and karyotypes at different stages of their disease in two patients with myxoid liposarcomas (MLS), one with a fibrosarcoma (FS), and two with rhabdomyosarcomas (RMS). None of the MLS samples revealed clearcut histologic changes in later samples as compared to their primaries, and the DNA ploidy in all samples was diploid. In one patient karyotypes at four different times during the 19 yr of his disease all revealed a t(11;12) (p15;q13), but additional clonal chromosomal abnormalities occurred only in later recurrences.

Cytogenetics of a case of eccrine spiradenoma.

A cytogenetic study of an eccrine spiradenoma and two lymph node metastases, with a growth pattern and microscopic appearance typical for benign eccrine spiradenoma, revealed a 46,XY-5,del(16)(q22),+mar(t(?;5)(?::5q13----5qter)) karyotype. The finding of the same abnormal karyotype in the tumor and the metastases suggests a relationship between the chromosomal abnormalities and the clinical malignant behavior of this morphologic benign tumor.

A recombinant topoisomerase I ELISA: screening for IgG, IgM and IgA anti-topo I autoantibodies in human sera.

An ELISA for the detection of anti-topoisomerase I autoantibodies in sera from patients with suspected or manifest rheumatic diseases is described. The antigen source used in this assay consists of a recombinant protein containing the last 695 C-terminal amino acid residues of human topoisomerase I (topo I). The sensitivity of the assay was 61%, while the specificity was more than 98%.

Dermatography, a treatment for sequelae after head and neck surgery: a case report.

Two patients with discolouration fo skin grafts after head and neck surgery, were treated with dermatography, a refined method of tattooing, and with intra-cicatricial keloidectomy, of which the results are described.

Imaging and differential diagnosis of synovial sarcoma.

Synovial sarcoma is an uncommon malignant tumor, most frequent in the lower extremity, predominantly in young males. The authors review the clinical history, the different radiographic manifestations and MR appearance of the entity. The MR findings cannot be considered specific for synovial sarcoma.

Cytogenetic analysis of the mature teratoma and the choriocarcinoma component of a testicular mixed nonseminomatous germ cell tumor.

We karyotyped two histologically distinct components with different metastatic behavior of a testicular nonseminomatous germ cell tumor. The two components showed an almost identical chromosomal pattern. These almost identical karyotypes of the two components with different metastatic potential suggest that the difference in biologic behavior might result from subtle differences (on microscopic or submicroscopic level) in chromosomal pattern or that these differences are predominantly epigenetically determined and depend primarily on the lineage of differentiation of the tumor component.