LINE-1 element insertion at the t(11;22) translocation breakpoint of a desmoplastic small round cell tumor

Genes Chromosomes and Cancer

Volumn 18, Issue 3, 1997, Pages 232-239

  Liu, Jun ^a   Nau, Marion M ^a   Zucman Rossi, Jessica ^c   Powell, John I ^b   Allegra, Carmen J ^a   Wright, John J ^a,d  

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c INSTITUT CURIE   (France)

^d NATIONAL NAVAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; RNA DIRECTED DNA POLYMERASE; TRANSCRIPTION FACTOR; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; RIBONUCLEOPROTEIN; RNA BINDING PROTEIN EWS;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 11; CONSENSUS SEQUENCE; CONTROLLED STUDY; DNA TRANSPOSITION; EWING SARCOMA; FEMALE; GENE INSERTION; HUMAN; HUMAN TISSUE; NEPHROBLASTOMA; PRIORITY JOURNAL; SARCOMA; ALLELE; CHROMOSOME 11; CHROMOSOME 22; CHROMOSOME MAP; DNA SEQUENCE; EXON; GENE TRANSLOCATION; GENETICS; INTRON; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; POLYMERASE CHAIN REACTION; RETROPOSON; SMALL CELL SARCOMA; SOUTHERN BLOTTING; TRANSPOSON; TUMOR SUPPRESSOR GENE;

ALLELES; BASE SEQUENCE; BLOTTING, SOUTHERN; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 22; DNA TRANSPOSABLE ELEMENTS; DNA, NEOPLASM; EXONS; GENES, WILMS TUMOR; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEINS; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; RETROELEMENTS; RIBONUCLEOPROTEINS; RNA-BINDING PROTEIN EWS; RNA-DIRECTED DNA POLYMERASE; SARCOMA, SMALL CELL; SEQUENCE ANALYSIS, DNA; TRANSLOCATION, GENETIC;

EID: 0030615218     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2264(199703)18:3<232::AID-GCC10>3.0.CO;2-K     Document Type: Article

References (44)

1. Belmaaza A, Wallenburg JC, Brouillette S, Gusew N, Chartrand P (1990) Genetic exchange between endogenous and exogenous LINE-1 repetitive elements in mouse cells. Nucl Acids Res 18:6385-6391.
2. Biegel JA, Conard K, Brooks JJ (1993) Translocation (11;22)(p13; q12): Primary change in intra-ahdominal desmoplastic small round cell tumor. Genes Chromosom Cancer 7:119-121.
3. Brodie SG, Stocker SJ, Wardlaw JC, Duncan MH, McConnell TS, Feddersen RM, Williams TM (1995) EWS and WT-1 gene fusion in desmoplastic small round cell tumor of the abdomen. Hum Pathol 26:1370-1374.
4. de Alava E, Ladanyi M, Rosai J, Gerald WL (1995) Detection of chimeric transcripts in desmoplastic small round cell tumor and related developmental tumors by reverse transcriptase polymerase chain reaction. Am J Pathol 147:1584-1591.
5. Delattre O, Zucman J, Plongastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G, Aurias A, Thomas G (1992) Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumors. Nature 359:162-165.
6. Delattre O, Zucman J, Melot T, Garau XS, Zucker JM, Lenoir GM, Ambros PF, Sheer D, Ture-Carel C, Triche TJ, Aurias A, Thomas G (1994) The Ewing family of tumors: A subgroup of small-round-cell tumors defined by specific chimeric transcripts. N Engl J Med 331:294-299.
7. Dombroski BA, Matthias SL, Nanthakumar K, Scott AF, Kazazian HH (1991) Isolation of an active human transposable element. Science 254:1805-1808.
8. Dombroski BA, Scott AF, Kazazian HH (1993) Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element. Proc Nat Acad Sci USA 90:6513-6517.
9. Fanning TG, Singer MF (1987) LINE-1: A mammal inn transposable element. Biochim Biophys Acta 910:203-212.
10. Gerald WL, Miller HK, Battifora H, Miettinen M, Silva EG, Rosai J (1991) Intra-abdominal desmoplastic small round-cell tumor. Am J Surg Pathol 15:499-513.
11. Gerald WL, Rosai J, Ladanyi M (1995) Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT-1 gene fusion of desmoplastic small round cell tumor. Proc Natl Acad Sci USA 92:1028-1032.
12. Gessler M, Konig A, Bruns GAP (1992) The genomic organization and expression of the WT-1 gene. Genomics 12:807-813.
13. Gish W, Slates DJ (1993) Identification of protein coding regions by database similarity search. Nature Genet 3:266-272.
14. Gonzalez-Crussi F, Crawford SE, Sun C-CJ (1990) Intraabdominal desmoplastic small-cell tumors with divergent differentiation. Am J Surg Pathol 14:633-642.
15. Gu Y, Cimino G, Alder H, Nakamura T, Prasad R, Canaani O, Moir DT, Jones C, Nowell PC, Croce CM, Canaani E (1992) The (4;11)(q21;q23) chromosome translocations in acute leukemias involve the VDJ recombinase. Proc Natl Acad Sci USA 89:10464-10468.
16. Holmes SE, Dombroski BA, Krebs CM, Boehm CD, Kazazian HH (1994) A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimeric insertion. Nature Genet 7:143-148.
17. Huang X, Miller W (1991) A time-efficient, linear-space, local similarity algorithm. Adv Appl Math 12:337-357.
18. Kazazian HH, Wong C, Voussonfian H, Scott AF, Phillips DG, Antonarakis SE (1988) Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 332:164-166.
19. Kingsmore SF, Giros B, Suh D, Bieniarz M, Caron MG, Seldin MF (1994) Glycine receptor β-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nature Genet 7:136-141.
20. Ladanyi M (1995) The emerging molecular genetics of sarcoma translocations. Diagn Mol Pathol 4:162-173.
21. Ladanyi M, Gerald W (1994) Fusion of the EWS and WF1 genes in the desmoplastic small round cell tumor. Cancer Res 54:2837-2840.
22. Loeb DD, Padgett RW, Hardies SC, Shehee WR, Comer MB, Edgell MH, Hutchison CA (1986) The sequence of a large L1Md element reveals a tandemly repeated 5′ end and several features found in retrotransposons. Mol Cell Biol 6:168-182.
23. Mathias S, Scott AF, Kazazian HH, Boeke JD, Gabriel A (1991) Reverse transcriptase encoded by a human transposable element. Science 254:1808-1810.
24. Miki Y, Nishisho I, Horii A, Miyoshi Y, Utsunomiya J, Kinzler KW, Vogelstein B, Nakamura Y (1992) Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer. Cancer Res 52:643-645.
25. Morse B, Rotherg PG, South VJ, Spandorfer JM, Astrin SM (1988) Insertional mutagenesis of the myc locus by a LINE-1 sequence in a human breast carcinoma. Nature 333:87-90.
26. Nagarajan L, Lange B, Cannizzaro L, Finan J, Nowell PC, Huebner K (1990) Molecular anatomy of a 5q interstitial deletion. Blood 75:82-87.
27. Narita N, Nishio H, Kitoh Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M (1993) Insertion of a 5′ truncated L1 element into the 3′ end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. J Clin Invest 91:1862-1867.
28. Negrini M, Felix CA, Martin C, Lange BJ, Nakamura T, Canaani E, Croce CM (1993) Potential topoisomerase II DNA-binding sites at the breakpoints of a t(9;11) chromosome translocation in acute mycloid leukemia. Cancer Res 53:4489-4492.
29. Ohno T, Ouchida M, Lee L, Gatalica Z, Rao VN, Reddy ESP (1994) The EWS gene, involved in Ewing family of tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors. codes tor an RNA binding protein with novel regulatory domains. Oncogene 9:3087-3097.
30. Ordonez NG, El-Naggar AK, Ro JY, Silva EG, MacKay B (1993) Intra-abdominal desmoplastic small cell tumor: A light microscoply, immunocytochemical, ultrastrucrural und flow cytometrical study. Hum Pathol 24:850-865.
31. Parkash V, Gerald WL, Parma A, Miettinen M, Rosai J (1995) Desmoplastic small round cell tumor of the pleura. Am J Surg Pathol 19:659-665.
32. Plougastel B, Zucman J, Peter M, Thomas G, Delattre O (1993) Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation. Genomics 18:609-615.
33. Pomykala HM, Bohlander SK, Broeker PL, Olopade OI, Diaz MO (1994) Breakpoint junctions of chromosome 9p deletions in two human glioma cell lines. Mol Cell Biol 14:7604-7610.
34. Richard M, Belmaaza A, Gusew N, Wallenburg JC, Chartrand P (1994) Integration of a vector containing a repetitive LINE-1 element in the human genome. Mol Cell Biol 14:6689-6695.
35. Rodriguez E, Sreekantaiah C, Gerald W, Reuter VE, Motzer RJ, Chaganti RSK (1993) A recurring translocation, t(11;22)(p13; q11.2), characterizes intra-abdominal desmoplastic small round-cell tumors. Cancer Genet Ctyogenet 69:17-21.
36. Sawyer JR, Tryka AF, Lewis JM (1992) A novel reciprocal chromosome translocation t(11;22)(p13;q12) in an intraabdominal desmoplastic small round-cell tumor. Am J Surg Pathol 16:411-416.
37. Sesterhenn I, Davis CJ, Mostofi FK (1987) Undifferentiated malignant epithelial tumors involving serosal surfaces of scrotum and abdomen in young males. J Urol (Suppl) 137:214A.
38. Singer MF, Krek V, McMillan JP, Swergold GD, Thayer RE (1993) LINE-1: A human transposable element. Gene 135:183-188.
39. Skowronski J, Fanning TG, Singer MK (1988) Unit-length Line-1 transcripts in human teratocarcinoma cells. Mol Cell Biol 8:1385-1397.
40. Tison V, Cerasoli S, Morigi F, Ladanvi M, Gerald WL, Rusai J (1996) Intracranial desmoplastic small-cell tumor. Am J Surg Pathol 30:112-117.
41. Trent JM, Meltzer PS (1993) The last shall be first. Nature Genet 3:101-102.
42. Wyatt RT, Rudders RA, Zelenetz A, De Lellis RA, Krontiris TG (1992) Bcl 3 oncosene translocation is mediated by a chi-like consensus. J Exp Med 175:1575-1588.
43. Zucman J, Delattre O, Desmaze C, Epstein A, Stenman G, Speleman F, Fletchers CDM, Aurias A, Thomas G (1992) Cloning and characterization of the Ewing's sarcoma and peripheral neuroepthelioma t(11;22) translocation breakpoints. Genes Chromosom Cancer 5:271-277.
44. Zucman J, Melot T, Desmaze C, Ghysdael J, Plougastel B, Peter M, Zucker JM, Triche TJ, Sheer D, Turc-Carel C, Ambros P, Combaret V, Lenoir G, Aurias A, Thomas G, Delattre O (1993) Combinatorial generation of variable fusion proteins in the Ewing family of tumors. EMBO J 12:4481-4487.