Spectral karyotyping reveals 17;22 fusions in a cytogenetically atypical dermatofibrosarcoma protuberans with a large marker chromosome as a sole abnormality.

The presence of an extra ring chromosome containing material from 17q and 22q, or, less frequently, a t(17;22)(q22;q13), is a cytogenetic hallmark of dermatofibrosarcoma protuberans (DFSP). However, occasionally tumors with other, atypical karyotypes are encountered. We describe a case of recurrent DFSP without a ring chromosome or a t(17;22) on standard cytogenetic analysis. In all cells analyzed by G-banding, an additional, large marker chromosome was present as a sole abnormality. This chromosome apparently included chromosome 8 or the 8q arm, but the origin of its remaining part could not be determined with certainty. To characterize further the abnormal chromosome, we applied spectral karyotyping (SKY). SKY confirmed the presence of an extra chromosome 8 or arm 8q in the marker and showed that its remaining part was composed of segments from chromosomes 7, 17, 21, and 22, with two copies of a 17;22 fusion. Our results and the literature data suggest that, in addition to a specific 17;22 fusion, amplification of material from chromosomes 17, 22, 8, 5, 7, and 21 may play a role in DFSP development and/or progression. Furthermore, our case demonstrates the usefulness of SKY in detection of a diagnostically relevant 17;22 fusion in DFSP patients who have unusual karyotypic features.

A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes.

A case with 47,XXY, del(11)(q23) karyotype-coexistence of Jacobsen and Klinefelter syndromes: A two-year-old dysmorphic male child was found to have 47,XXY,del(11)(q23) karyotype. Domination of the clinical features of Jacobsen syndrome was observed: mild mental retardation, trigonocephaly, ptosis, downward slanting palpebral fissures, low set ears, carp-shape mouth and micrognathia. Transient thrombocytopenia and leukopenia were also present. Over the following five years gynecomastia and eunuchoid body proportions became evident as clinical features of Klinefelter syndrome. This is the first description of the coexistence of both syndromes.

Cytogenetics of uterine sarcomas: presentation of eight new cases and review of the literature.

Tissue from 14 uterine tumor samples from eight patients-four with endometrial stromal sarcoma (ESS), two with leiomyosarcoma (ULMS), and two with malignant mixed mesodermal tumor (MMMT)-were investigated cytogenetically after short-term culturing. Clonal chromosome aberrations were found in 12 tumors. One ESS showed a recombination between 7p14 and 17q12, a rearrangement characterizing a subset of ESSs. In our series, chromosomes 1, 6, 7, and 16 were involved in structural aberrations most frequently (four cases each). Net loss of 6q material was found in four cases and bands 11q13, 16q13, and 22q13 were each rearranged in four cases. Among 43 uterine sarcomas, including 12 MMTs, now available for evaluation, some differences in breakpoint distribution among different tumor types were found. Rearrangements of bands 1p32, 3p24, and 10q22 were found exclusively in ULMS, whereas aberrations of bands 6p21, 7p21, and 17q12 were found predominantly in ESS.

Sarcomatoid carcinoma (carcinosarcoma) of the gallbladder.

We report a case of carcinoma of the gallbladder in a 67-year-old woman. The description comprises the histological, immunohistochemical, ultrastructural and cytogenetical picture of the tumor. The ultrastructural features as well as chromosomal changes may denote the epithelial derivation of the tumor studied.

Parachordoma: a rare sarcoma with clonal chromosomal changes.

This is the first report on clonal chromosomal aberrations in a metastatic parachordoma lesion. All neoplastic cells had the karyotype 33-47,X,der(X)t(X;3) (p11;p11),der(3)t(3;6)(p11;q13), del(6)(q13), -9, -13,r(13), +mar. The presence of t(X;3) with a breakpoint at band Xp11 as in synovial sarcoma may suggest a common histological origin of the two tumor types.

Cytogenetic findings in an embryonal sarcoma of the liver.

An undifferentiated embryonal sarcoma (malignant mesenchymoma) of the liver from a 5-year-old girl was found to have near-triploid and near-hexaploid clones with several chromosomal rearrangements. This is the first description of the chromosomal changes in this tumor type.

Translocation (X;1)(p11.2;q21) in a papillary renal cell carcinoma in a 14-year-old girl.

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.

Recurrent chromosome changes in two adult fibrosarcomas.

Cytogenetic analysis of two adult fibrosarcomas revealed clonal chromosomal rearrangements including unbalanced translocations between chromosomes 2 and 19, with the same segment, 2q21-qter, translocated onto 19p13 in one tumor and 19q13 in another; and partial monosomy of 10q due to add(10)(q22) and del(10)(q22q25) seen in one tumor each. This is the first description of nonrandom chromosomal changes in adult fibrosarcoma.

Accumulation of chromosomal changes in human glioma progression. A cytogenetic study of 50 cases.

Cytogenetic studies of 50 human gliomas, including three oligodendrogliomas, 16 grade I-III astrocytomas, and 31 glioblastomas multiforme, were performed using the short-term tissue culture method. The most common numerical chromosome aberrations were +7, -9, -10, -14, and loss of a sex chromosome. Structural changes involved predominantly the following chromosome arms: 1q, 2q, 6q, 7q, 9p, 14q, 17p, and 18p. Losses of chromosomes 9, 10, and 14, often occurring simultaneously and in polyploid clones, were observed almost exclusively in high-grade gliomas, and appear to constitute important events during glioma progression.

Aberrations of chromosome 22 and polysomy of chromosome 8 as non-random changes in clear cell sarcoma.

Cytogenetic analysis was performed on a primary tumor and a metastatic lesion of a clear cell sarcoma of tendons and aponeuroses (CCS), a rare soft tissue neoplasm of uncertain histopathologic origin. Clonal chromosomal abnormalities resulting in two related clones were found in both tumors. The karyotype was near-triploid with several structural and numerical changes, comprising a der(15;22) (q10;q10). Including the present case, 14 of 15 cases of CCS have had structural or numerical aberrations of chromosome 22 and nine of them (65%) displayed a similar or identical t(12;22)(q13-14;q12-13). Our findings suggest that in the absence of specific t(12;22), other abnormalities of chromosome 22 may be significant. In addition, increased doses of chromosome 8 found in 70% of the tumors strongly suggest a significant role for this chromosome in the development of clear cell sarcoma.

[Pharmacotoxicologic characteristics of pentacaine]. / Farmakotoxikologická charakteristika pentakaínu.

Long-term administration of pentacaine to experimental animals in investigations of chronic toxicities confirmed that this substance is relatively safe in amounts of 10 mg/kg/day. Larger doses caused ECG changes, as well as changes of some clinical and biochemical indicators and histopathological findings which were independent on the dose and sex. The embryotoxic and teratogenic action of pentacaine was manifested only after large doses in mice (more than 20 mg/kg). Doses under 10 mg/kg per day did not produce toxic effects in mother and foetus, whereby the substance penetrates through the placenta and is distributed in the maternal and foetal organs of rabbits in a proportionate way. From the in vitro action of pentacaine ensues that it has a strong stimulating action on isolated cells which gradually changes into cytotoxic action. The results support the decision not to use pentacaine for intravenous, infiltration and conduction anaesthesia and to recommend only its oral administration.

Cytogenetics of synovial sarcoma: presentation of ten new cases and review of the literature.

Cytogenetic study of five biphasic and five monophasic synovial sarcomas revealed the specific abnormality t(X;18) (p11;q11) in eight cases and t(X;15;18) (p11;q15;q11) and t(X;7) (q11-12;q32) in one case each. Additional, secondary aberrations were present in eight of these tumors. By combining our data with information on previously published cytogenetically abnormal synovial sarcomas, we were able to evaluate 32 tumor samples from 29 patients. The modal chromosome number was pseudodiploid or near diploid in 26 of the 32 tumors. A t(X;18) was present in 21 of 29 cases (72%). Complex translocations involving chromosomes X and 18 and another autosome were present in five cases, and one displayed a t(5;18). There was no visible rearrangement of chromosome bands Xp11 or 18q11 in only 2 of the 32 synovial sarcomas. Half of the primary tumors (6 of 12) had the X;18-translocation as the sole abnormality. Of the remaining 20 specimens from recurrent or metastatic tumors (in three cases two tumors could be analyzed), only one had t(X;18) as the sole change. The secondary aberrations in cases exhibiting clonal evolution were also generally more extensive in the metastatic and recurrent than in the primary sarcomas (five additional aberrations per case, compared with two). Chromosomes 1 and 12 were the chromosomes most frequently (one fourth of the cases) involved in additional structural changes, but with several different breakpoints. No differences were identified between the karyotypic profiles of monophasic and biphasic synovial sarcomas.

On the significance of trisomy 7 and sex chromosome loss in renal cell carcinoma.

Cytogenetic analysis of 30 renal cell carcinomas showed 3p aberrations in nine tumors, trisomy 7 in 17 tumors, and clonal loss of one sex chromosome in 14 tumors. The 3p aberrations and trisomy 7 were present in the same clone in two tumors and in separate clones in three tumors. Loss of one sex chromosome was present together with 3p aberrations in the same clone in one tumor and occurred in seemingly unrelated clones in two tumors. It occurred as the sole change in five tumors. Clones with trisomy 7 as the only change were present in six tumors. Trisomy 7 and loss of one sex chromosome were present in separate clones in four tumors and in the same clone in one tumor. Because +7 and -X/-Y were thus rarely present together with clonal structural abnormalities, in particular 3p changes, our findings make it highly unlikely that loss of one sex chromosome or trisomy 7 represents a primary change in renal cell carcinoma. We instead suggest that there is a tendency for normal kidney cells to lose an X or a Y chromosome and also to gain an extra copy of chromosome 7. This tendency is retained by renal carcinoma cells; therefore, trisomy 7 and sex chromosome loss should not be viewed as tumor-specific abnormalities in this context. Whether these simple numerical aberrations reflect in vivo mosaicism or are acquired in vitro remains unresolved.

[Hematologic and biochemical characteristics of the effects of pentacaine in pregnant rabbits]. / Hematologická a biochemická charakteristika úcinkov pentakaínu u gravidných králikov.

The effect of intragastric administration of pentacaine, a novel Czechoslovak local anesthetic with antiulcer and gastro-protective effect, was studied on the basis of hematological and biochemical parameters in pregnant white New Zealand rabbits. Pentacaine administration in doses of 1, 10, and 50 mg/kg from day 6 to 20 of gestation showed neither signs of toxic effect on hematological parameters, nor did it affect the activity of serum enzymes and the level of glucose, creatinine, urea, and total proteins. The presented results corroborate the safety of pentacaine administration on the applied biomodel.

Trisomy of chromosome 12 in a case of thecoma of the ovary.

Cytogenetic analysis was performed after short-term tissue culture of a thecoma of the ovary. Trisomy of chromosome 12 was revealed as the sole chromosome abnormality. This is the first report of a chromosomal aberration in thecoma of the ovary.

[Cytogenetic studies of families with reproductive failure]. / Badania cytogenetyczne w rodzinach z niepowodzeniami rozrodu.

Cytogenetic analysis carried out in 209 patients with reproduction failure demonstrated chromosomal aberrations in 6 married couples. In 5 of these cases balanced translocations were found, and in one case 45,X/46,XX cell mosaicism was present. The proportion of abnormal karyotypes in the group was 5.7% per one couple and was only slightly lower than the mean frequency of chromosomal aberrations calculated by the authors in cases of reproduction failures diagnosed in other cytogenetic laboratories in Poland-6.7%. The identical frequency of aberrations in married couples with a history of 2 or 3 or more abortions indicates the necessity of carrying out cytogenetic investigations already after two spontaneous abortions.

Cytogenetic findings in two synovial sarcomas.

Cytogenetic analysis was performed after short-term tissue culture of two recurrent synovial sarcomas. The tumors were classified on the basis of morphology, location, and immunohistochemistry. In a poorly differentiated tumor, the karyotype 49,XY, +7, +8, +19,t(5:18) (q11.2;q11.2), and in a biphasic tumor two clonal cell lines with common translocations t(X;18)(p11.2;q11.2) and t(12;17)(p11.2;q11.2) were present. In the predominant cell line several other structural aberrations including t(1;12)(q21;q24.3), t(3;18)(p23;q21), and 17p+ were found. A comparison of our results with previously published studies suggests that in addition to t(X;18), translocations of chromosome 18 with other chromosomes may represent a consistent feature of chromosomal changes in synovial sarcoma.

Trisomy 13 in a case of myelodysplastic syndrome.

The clinical and cytogenetic findings of a patient with refractory anemia with excess of blasts are presented. Trisomy 13 was present as the sole numerical aberration in all analyzed bone marrow metaphases; this finding has not been reported previously in myelodysblastic syndrome.