Clear cell sarcoma case report: complex karyotype including t(12;22) in primary and metastatic tumor.

Clear cell sarcoma (CCS) is a rare and aggressive tumor, arising mainly in the soft tissue of the extremities in young adults. A distinctive chromosomal translocation, t(12;22)(q13;q12), has been found in most reported cases. We performed cytogenetic analyses on a primary and subsequent metastatic CCS that contained the t(12;22), along with other complex karyotypic changes.

Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors.

Inflammatory myofibroblastic tumor (IMT) is a relatively rare soft tissue tumor. The reactive versus neoplastic pathogenesis of this tumor is unresolved. We found clonal chromosome aberrations involving 2p23 upon metaphase analysis of two IMTs.

Trisomy 5 and trisomy 7 are nonrandom aberrations in pigmented villonodular synovitis: confirmation of trisomy 7 in uncultured cells.

Pigmented villonodular synovitis (PVNS) is a proliferative lesion of disputed genesis. Recently, we reported trisomy 7 in short-term cultures of 1 PVNS. In the present report, we describe another specimen of PVNS in which 9 of 26 (35 percent) metaphase cells demonstrated trisomy 7 when analyzed after 3-15 days of tissue culture.

Induction of c-fos and c-myc mRNA by epidermal growth factor or calcium ionophore is cAMP dependent.

Phorbol esters activate protein kinase C and induce expression of the c-fos and c-myc protooncogenes in density-arrested BALB/c 3T3 (A31) cells; in contrast, epidermal growth factor (EGF) does not activate protein kinase C and is a poor inducer of c-fos and c-myc in these confluent cells. We show that, when A31 cells were subconfluent and made quiescent by serum deprivation, the phorbol ester phorbol 12-myristate 13-acetate induced c-fos and c-myc mRNA poorly, whereas EGF was a better inducer. Another platelet-derived growth factor-inducible gene, JE, did not show this differential regulation by phorbol 12-myristate 13-acetate and EGF.

Sequential development of distinct clonal chromosome abnormalities in a patient with preleukaemia.

Preleukaemia has been identified as a clonal haemopathy in which progression to acute leukaemia involves conservation of the preleukaemic karyotype in the blast cells or the development of new abnormalities superimposed on the original clone. In this report, a case of childhood preleukaemia is presented in which two cytogenetically distinct clones developed over 2 years in a dysplastic marrow that was initially karyotypically normal. One clone with 47 chromosomes (47,XY,+21), disappeared without therapy.

A pericentric inversion of chromosome 16 is associated with dysplastic marrow eosinophils in acute myelomonocytic leukemia.

Cytogenetic studies were performed in 18 consecutive children with acute nonlymphocytic leukemia (ANLL) between 1981 and 1983. Three children with acute myelomonocytic leukemia (AMMoL; M4, FAB classification) had the following unique bone marrow morphology and cytogenetic abnormality: eosinophilic precursors with dysplastic violaceous granules and a pericentric inversion of chromosome 16. Surface marker analysis of leukemic cells from these patients, using a panel of monoclonal antibodies, revealed the expression of a series of monocyte markers.

Immunological and cytogenetic studies in two cases of B-cell acute lymphoblastic leukemia (Burkitt's type).

Immunological and cytogenetic studies were performed on two patients who presented with L-3 acute lymphocytic leukemia (Burkitt-type). Surface marker studies showed that both had B-cell leukemias. The blast cells in Case 1 expressed monoclonal IgM kappa surface immunoglobulin and in Case 2, IgG kappa.

Partial trisomy 8 (trisomy 8q2106 leads to 8qter).

A case of trisomy for part of the long arm of chromosome 8, confirmed by G-banding analysis, in a white male infant is described. The mother carried a reciprocal translocation between chromosome 8 and chromosome 13 (46,XX,t(8;13),(q21:q34). The patient had inherited the translocated chromosome 13 and was thus trisomic for the distal half of the long arm of chromosome 8.