Reciprocal translocation t(12;22)(q13;q13) in clear-cell sarcoma of tendons and aponeuroses.

Clearcell sarcoma is a rare soft tissue sarcoma that displays certain similarities to malignant melanoma. In this paper we describe the karyotypic findings and in vitro growth characteristics of a shorttermcultured clearcell sarcoma. The cultured tumor cells had preserved immunohistochemical characteristics and certain ultrastructural features of the primary tumor, including positivity for vimentin, S-100 protein, and a melanomaassociated antigen, supporting the authenticity of the cultured cells. Cytogenetic analysis revealed an abnormal stemline karyotype of 49,XY, –1, + 8, + 8, + 12, + der(l)t(1;?)(p36.1 –.3;?), t(12,22)(q13;q13). A similar or identical t(12;22) was recently reported in two of four clear-cell sarcomas. It is suggested that the t(12;22)(q13;q13) is a primary cytogenetic abnormality in clear-cell sarcoma and distinguishes this tumor type from malignant melanoma.     

Translocation t(12;22)(q13;q13) is a nonrandom rearrangement in clear cell sarcoma.

Cytogenetic analyses of tumor cells from a case of clear cell sarcoma revealed a translocation between chromosomes 12 and 22 that was similar to the rearrangement described recently in three other cases. It is suggested that the translocation may be important in the pathogenesis of this rare tumor.     

Translocation (10;17)(q22;p13): a recurring translocation in clear cell sarcoma of kidney

A clear cell sarcoma from the kidney of a 12-month-old male child manifested a balanced translocation, t(10;17)(q22;p13). This is the second report of this cytogenetic abnormality in renal clear cell sarcoma.     

Clear cell sarcoma with t(12;22) (q13-14;q12).

Karyotypic analysis of a clear cell sarcoma revealed a translocation t(12;22) (q13-14;q12) as a primary chromosomal change. This case is the third clear cell sarcoma cytogenetically analyzed; the two previously reported cases had t(12;22)(p11;p11), and a complex karyotype with trisomy 22, respectively.     

t(12;22)(q13;q13) and trisomy 8 are nonrandom aberrations in clear-cell sarcoma.

We report a case of clear-cell sarcoma with a t(12;22)(q13;q13) and multiple copies of chromosome 8 in addition to other abnormalities. An identical or similar translocation has previously been reported in this type of tumor, suggesting that the t(12;22) is a primary cytogenetic change in the pathogenesis of a subset of clear-cell sarcomas. In addition, the presence of extra copies of chromosome 8, commonly noted in our case and others, suggests that it represents a nonrandom secondary change in these tumors.     

Dermatofibrosarcoma protuberans harboring t(9;22)(q32;q12.2)

More than 20 cases of dermatofibrosarcoma protuberans (DFSP) exhibiting chromosomal abnormalities have been reported. Approximately three fourths of these tumors have harbored supernumerary ring chromosomes, which have been suggested to be specific for this tumor. However, a small number of DFSPs with translocations such as t(2;17), t(X;7), and t(17;22) have recently been reported. We report a DFSP arising in a 23-year-old woman which unexpectedly exhibited the balanced translocation, t(9;22)(q32;q12.2) as the only anomaly with G-band technique. Dual-color fluorescence in situ hybridization (FISH) confirmed these cytogenetic findings. Similar to that previously reported for DFSPs with translocations, the present tumor also lacked ring chromosomes.     

Detection of a novel reciprocal t(16;22)(q11.2;q12) in a Ewing sarcoma

Several structural and numerical chromosomal abnormalities have been identified as primary and secondary chromosomal aberrations in Ewing sarcoma (ES). The majority of these are t(11;22) and trisomies, especially of chromosome 8. Specific chromosomal abnormalities often correlate with particular morphologic or phenotypic subtypes of tumor and play an important role in prognosis. The objective of this report is the cytogenetic evaluation of a case of ES using G-banding, fluorescence in situ hybridization, and spectral karyotyping techniques. Multiple chromosomal aberrations were identified including a novel reciprocal t(16;22)(q11.2;q12).     

Neural crest origin of clear cell sarcoma of tendons and aponeuroses

Summary In order to clarify the histogenesis of clear cell sarcoma of tendons and aponeuroses (CCS), two cases of human and one nude mouse-transplanted CCS line were studied using an ultrastructural and enzyme cytochemical approach. Most of the tumour cells obtained from the primary and transplanted CCS demonstrated melanosomes in various stages of development within the cytoplasm, whereas no melanosomes could be identified in the metastatic CCS. However, cholinesterase and tyrosinase activities could be demonstrated not only in the melanotic primary and transplanted CCS but also in the amelanotic metastatic CCS. The results therefore support the hypothesis that CCS is a soft tissue tumour derived from the neural crest.     

t(6;12)(q23;q13) and t(10;16)(q22;p11) in a phyllodes tumor of breast.

Cytogenetic analysis of short-term cultures from a phyllodes tumor showed clonal chromosome changes including t(6;12)(q23;q13) and t(10;16)(q22;p11). This is the first reported karyotype in this tumor type. We discuss the breakpoints of these translocations in relation to the involvement of possible candidate genes.     

Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13)

Trisomy 13 is very rare in live-born children. Only a small number of these children survive the first year and very few cases are reported to live longer. Survival time depends partly on the cytogenetic findings - full trisomy 13 or trisomy 13 mosaicism - and partly on the existence of serious somatic malformations. We report on a 11-year-old girl with full trisomy 13. In this case, missing cerebral and cardiovascular malformations probably allowed the long survival.     

Translocation t(3;12)(q28;q14) in parosteal lipoma

Parosteal lipoma is a rare primary benign bone tumor demonstrating histopathologic features similar to those seen in the commonly occurring lipoma of soft tissue. Cytogenetic studies of soft tissue lipoma have demonstrated frequent abnormalities of 12q13–15. To the best of our knowledge the cytogenetic findings in parosteal lipoma have not yet been described. Cytogenetic analysis of a parosteal lipoma of the femur of a 51-year-old female revealed a t(3;12)(q28;q14), indicating that bone and soft tissue lipomas are cytogenetically similar and likely share a common histopathogenesis.