title: Karyotypic divergence and convergence in two synchronous lung metastases of a clear cell sarcoma of tendons and aponeuroses with t(12;22)(q13;q12) and type 1 EWS/ATF1.
abstract: Clear cell sarcoma of tendons and aponeuroses (CCS) is an uncommon malignancy characterized by a t(12;22)(q13;q12) causing a fusion of the EWS and ATF1 genes. We describe the cytogenetic and molecular genetic analyses of two lung metastases from a CCS patient. Both lesions presented the defining t(12;22) and a type 1 EWS/ATF1 chimeric transcript. The additional cytogenetic changes present in the two lesions allowed us to obtain some insight into the pathogenetic basis of disease progression. Four related clones were identified in the right lung metastasis, permitting a partial reconstitution of the stepwise clonal evolution, whereas the left lung metastasis presented yet another subclone. The comparison of the two karyotypes enabled us to pinpoint which changes occurred in the primary tumor and which emerged independently after the two metastases had been established. We conclude that both clonal divergence and convergence may be operative during tumor progression of CCS.
authors.affiliation: Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal. mteixeir@ipoporto.min-saude.pt
authors.forename: Manuel R
authors.initials: MR
authors.lastname: Teixeira
authors.forename: Franclim R
authors.initials: FR
authors.lastname: Ribeiro
authors.forename: Nuno
authors.initials: N
authors.lastname: Cerveira
authors.forename: Lurdes
authors.initials: L
authors.lastname: Torres
authors.forename: Teresina
authors.initials: T
authors.lastname: Amaro
authors.forename: Rui
authors.initials: R
authors.lastname: Henrique
authors.forename: Carlos
authors.initials: C
authors.lastname: Lopes
mesh_terms: D000328:Adult; D002881:Chromosomes, Human, Pair 12; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D007621:Karyotyping; D008175:Lung Neoplasms / Q000235:genetics; D008297:Male; D009362:Neoplasm Metastasis / Q000235:genetics*; D009372:Neoplasms, Connective Tissue / Q000235:genetics* / Q000556:secondary; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018227:Sarcoma, Clear Cell / Q000235:genetics*; D013710:Tendons / Q000503:physiopathology*; D014157:Transcription Factors; D014178:Translocation, Genetic
chemical_list: C111598:EWS-ATF1 fusion protein, human; D015514:Oncogene Proteins, Fusion; D014157:Transcription Factors