Translocations t(X;7) and t(7;14) in a synovial sarcoma.

Cytogenetic analysis of a metastatic biphasic synovial sarcoma showed two structural abnormalities: t(X;7)(q11 or 12;q32) and t(7;14)(q22;q11.2). This is the first report of a synovial sarcoma without the involvement of either Xp11 or 18q11.

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.

An improved technique for short-term culturing of human prostatic adenocarcinoma tissue for cytogenetic analysis.

An improved technique for cytogenetic analysis of malignant prostatic tissue is described. This method is based on 1) prolonged mild collagenase treatment, 2) careful washing and repeated centrifugation and sedimentation of the disaggregated material to isolate viable prostatic epithelial cells, 3) short-term culture on collagen R-coated chamber slides with PFMR-4 medium supplemented with mitogenic factors, and 4) daily inspection of the cultured cells to determine the optimal time for harvesting. Twenty consecutive primary prostatic adenocarcinomas were cultured and processed for cytogenetic analysis.

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.

Trisomy 7, trisomy 10, and loss of the Y chromosome in short-term cultures of normal kidney tissue.

Numerical chromosome aberrations are common in several types of malignant tumors. Recently, trisomy 7 and loss of the Y chromosome were described in cultures from nonneoplastic tissue, making the significance of these aberrations as cancer-associated changes doubtful. We herein report the mosaic occurrence of trisomy 7 in four consecutive short-term cultures initiated from normal kidney tissue.

[Cytogenetic studies of families with reproductive failure].

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.

Double minutes in two primary adenocarcinomas of the prostate.

Double minute chromosomes were found in metaphases from short-term tissue cultures of two primary prostatic adenocarcinomas. This is the first cytogenetic evidence of gene amplification in this tumor type.

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.

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.

Two mosaic cases with nonfluorescent Y chromosome analysed with Y-specific DNA probes.

Two cases of a nonfluorescent Y (Ynf) chromosome were diagnosed: one in a male, the other in a female. Both had similar complex mosaic chromosome constitutions with a 45,X cell line. DNA studies were applied in both cases for verification of the cytogenetic diagnosis.

Involvement of chromosomes 3 and 5 in renal cell carcinoma.

Clonal chromosome abnormalities in short-term cultures were found in 18 of 51 nonfamilial renal cell carcinomas. The breakpoints on chromosome 3 in seven specimens clustered in region 3p11-3p24.2, confirming its importance in the genesis of renal cell carcinoma.

Abnormally banded region in a poorly differentiated sarcoma is not correlated with amplification of c-MYC or c-MOS protooncogenes.

A poorly differentiated sarcoma in a 32-year-old female revealed a large, abnormally banded region in one chromosome #8 in all metaphases. The modal karyotype was 46,XX, -8, +mar. Southern blot hybridization was performed with probes for two protooncogenes located in chromosome 8q (c-MYC and c-MOS).

Chromosome changes in metastatic human melanoma.

Cytogenetic studies were performed on human malignant melanoma cells from eight metastatic lesions. Five tumors displayed near-triploid and three near-diploid chromosome numbers. Chromosomes #1, #6, #7, followed by #2 and #9, were found to be most frequently involved in structural aberrations.

Chromosomal changes in soft-tissue sarcomas. A new diagnostic parameter.

A cytogenetic study was performed on short-term cultures from fresh surgical specimens obtained from 41 patients with soft-tissue sarcomas of various histologic origins. The results demonstrated that myxoid liposarcomas (five tumors) were associated with a specific translocation between chromosomes 12 and 16 and that synovial sarcomas (six tumors) were associated with a specific translocation between the X chromosome and chromosome 18. These chromosomal data have been used to differentiate myxoid liposarcoma from other myxoid tumors exhibiting a non-characteristic histologic picture, as well as to ascertain the diagnosis of synovial sarcoma in undifferentiated soft-tissue sarcomas.

Translocation t(4;11)(q35;p13) in an adrenocortical carcinoma.

Chromosome studies were performed on an adrenocortical carcinoma extending into the kidney. The following karyotype was present in all metaphases: 46,XX,t(4;11)(q35;p13). Two metaphases with an additional del(1)(q23) were found.

Cytogenetic findings in a primary adrenocortical carcinoma.

Cytogenetic analysis of a primary adrenocortical carcinoma revealed clonal rearrangements of several autosomes and sex chromosomes. In all metaphases the following marker chromosomes were present: 4p+,t(3;12)(p14;p13),14q+, t(15;20)(p11;q11), t(5;18) (p13.3;p11.

Involvement of chromosome X in primary cytogenetic change in human neoplasia: nonrandom translocation in synovial sarcoma.

A translocation that involves chromosome X (band p11.2) and chromosome 18 (band q11.2) was observed in short-term in vitro cultures of cells from five synovial sarcomas and one malignant fibrous histiocytoma.

Chromosome changes associated with spontaneous phenotypic variation of transplantable melanoma.

The chromosome constitutions of black-melanotic (Ma), brown-melanotic (MI), and amelanotic (Ab) melanomas of the Syrian hamster were compared. The MI and Ab melanomas arose through a spontaneous phenotypic alteration of the Ma tumor. All three variants differ in their growth rates, with MI showing the slowest, Ab the fastest, and Ma intermediate growth rate.

Cytogenetic studies of adipose tissue tumors. II. Recurrent reciprocal translocation t(12;16)(q13;p11) in myxoid liposarcomas.

Detailed chromosome studies, briefly reported previously, from short-term cultures of tumor cells from myxoid liposarcomas are reported. A common reciprocal translocation, t(12;16)(q13;p11), was found in three cases and a complex t(1;12;16)(p11;q13;p11) in the fourth one. This nonrandom primary change, not described before in solid tumors, could characterize the myxoid form of liposarcoma.

Application of long-term collagenase disaggregation for the cytogenetic analysis of human solid tumors.

A method has been elaborated for obtaining chromosome preparations from different histologic types of human solid tumors and applied to 60 cases. Such tumors were mechanically dispersed, washed by settling and transferred into flasks containing collagenase (200 U/ml) in the growth medium. Tumor pieces were dissociated in enzyme for 16 hours to 6 days, depending on tumor consistency.

Translocations involving the X chromosome in solid tumors: presentation of two sarcomas with t(X;18)(q13;p11).

Cytogenetic analysis of two poorly differentiated sarcomas revealed clonal chromosomal rearrangements involving several autosomes and the X chromosome. Both tumors displayed a common abnormality, t(X;18)(q13;p11). This finding is discussed in relation to published X/autosomes translocations in solid tumors.

Cytogenetic findings in a primary leiomyosarcoma of the prostate.

Cytogenetic analysis of a primary leiomyosarcoma of the prostate revealed a clonal chromosomal rearrangement involving chromosomes #2, #3, #9, #11, and #19. The results are discussed in relation to the cytogenetic findings in other solid tumors, especially those of the prostate and leiomyosarcoma at other sites.