Der(16)t(1;16) is a nonrandom secondary chromosome aberration in many types of human neoplasia, including myxoid liposarcoma, rhabdomyosarcoma and Philadelphia chromosome-positive acute lymphoblastic leukemia

An unbalanced translocation between chromosomes 1 and 16, der(16)t(1;16), resulting in trisomy 1q and loss of genetic material from 16q, has been thus far suggested to constitute a nonrandom secondary abnormality in two types of closely related solid tumors - Ewing sarcoma and peripheral primitive neuroepithelial tumor (PNET). We report on three cases of soft tissue tumors, a myxoid liposarcoma, a PNET and a rhabdomyosarcoma, and four cases of hematologic disorders, two acute lymphoblastic leukemias (ALL), an acute mixed leukemia and a refractory anemia, that in addition to primary chromosome abnormalities displayed the presence of the der(16)t(1;16). All three cases of acute leukemia were Philadelphia (Ph) chromosome-positive and all displayed both lymphoid and myeloid antigens. Our results and review of the literature indicate that the occurrence of der(16)t(1;16) is not limited to Ewing sarcoma and PNET, but that acquisition of this abnormality may represent a more general pathway of clonal evolution in several different tumor types including Ph chromosome-positive ALL, myxoid liposarcoma, rhabdomyosarcoma, breast cancer, endometrial adenocarcinoma, myelodysplastic syndromes, acute myeloid leukemia, retinoblastoma, and Wilms' tumor.