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. 1995

K Mrozek, and D Arthur, and C Karakousis, and P Koduru, and M Lebeau, and M Pettenati, and R Tantravahi, and E Mrozek, and C Perezmesa, and U Rao, and S Frankel, and F Davey, and C Bloomfield
ROSWELL PK CANC INST,DEPT SURG ONCOL,BUFFALO,NY 14263. ROSWELL PK CANC INST,DEPT PATHOL,BUFFALO,NY 14263. UNIV MINNESOTA,DEPT LAB MED & PATHOL,MINNEAPOLIS,MN 55455. N SHORE UNIV HOSP,DEPT LABS,MANHASSET,NY 11030. UNIV CHICAGO,MED CTR,CHICAGO,IL 60637. WAKE FOREST UNIV,BOWMAN GRAY SCH MED,DEPT PEDIAT,WINSTON SALEM,NC 27157. DANA FARBER CANC INST,BOSTON,MA 02115. SUNY HLTH SCI CTR,SYRACUSE,NY 13210.

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.

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