Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: Cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma

American Journal of Pathology

Volumn 153, Issue 5, 1998, Pages 1451-1458

  Rubin, Brian P ^a,d   Chen, Chang Jie ^a,d   Morgan, Thomas W ^a   Xiao, Sheng ^a,d   Grier, Holcombe E ^c,d   Kozakewich, Harry P ^b,c,d   Perez Atayde, Antonio R ^b,c,d   Fletcher, Jonathan A ^a,c,d  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c DANA FARBER CANCER INSTITUTE   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 12; CLINICAL ARTICLE; CYTOGENETICS; FEMALE; FIBROSARCOMA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FUSION; HUMAN; HUMAN TISSUE; INFANT; KARYOTYPING; MALE; MESOBLASTIC NEPHROMA; NEWBORN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS;

EID: 0031738824     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)65732-X     Document Type: Article

References (45)

1. Marsden HB, Lawler W: Primary renal tumours in the first year of life: a population based review. Virchows Arch A 1983, 399:1-9
2. Bolande RP, Brough AJ, Izant RJ: Congenital mesoblastic nephroma of infancy: a report of eight cases and the relationship to Wilms' tumor. Pediatrics 1967, 40:272-278
3. Bolande RP: Congenital mesoblastic nephroma of infancy. Perspect Pediatr Pathol 1973, 1:227-250
4. Richmond H, Dougall AJ: Neonatal renal tumors. J Pediatr Surg 1970, 5:413-418
5. Wigger HJ: Fetal hamartoma of kidney: a benign, symptomatic, congenital tumor, not a form of Wilms' tumor. Am J Clin Pathol 1969, 51:323-337
6. Howell CH, Othersen HB, Kiviat NE, Norkool P, Beckwith JB, D'Angio GJ: Therapy and outcome in 51 children with mesoblastic nephroma: a report of the National Wilms' Tumor Study. J Pediatr Surg 1982, 17:826-831
7. Chan HS, Cheng MY, Mancer K, Payton D, Weitzman SS, Kotecha P, Daneman A: Congenital mesoblastic nephroma: a clinicoradiologic study of 17 cases representing the pathologic spectrum of the disease. J Pediatr 1987, 111:64-70
8. Sandstedt B, Delemarre JFM, Krul EJ, Tournade MF: Mesoblastic nephromas: a study of 29 tumors from the SIOP nephroblastoma file. Histopathology 1985, 9:741-750
9. Joshi VV, Kasznica J, Walters TR: Atypical mesoblastic nephroma. Arch Pathol Lab Med 1986, 110:100-106
10. Gonzalez-Crussi F, Sotelo-Avila C, Kidd JM: Malignant mesenchymal nephroma of infancy: report of a case with pulmonary metastases. Am J Surg Pathol 1980, 4:185-190
11. Stout AP: Fibrosarcomas in infants and children. Cancer 1962, 15: 1028-1040
12. Coffin CM, Jaszcz W, O'Shea PA, Dehner LP: So-called congenital-infantile fibrosarcoma: does it exist and what is it? Pediatr Pathol 1994, 14:133-150
13. Iwasaki H, Enjoji M: Infantile and adult fibrosarcomas of the soft tissues. Acta Pathol Jpn 1979, 29:377
14. Bernstein R, Zeltzer PM, Lin F, Carpenter PM: Trisomy 11 and other nonrandom trisomies in congenital fibrosarcoma. Cancer Genet Cytogenet 1994, 78:82-86
15. Schofield DE, Yunis EJ, Fletcher JA: Chromosome aberrations in mesoblastic nephroma. Am J Pathol 1993, 143:714-724
16. Schofield DE, Fletcher JA, Grier HE, Yunis EJ: Fibrosarcoma in infants and children: application of new techniques. Am J Surg Pathol 1994, 18:14-24
17. Adam LR, Davison EV, Malcolm AJ, Pearson AD, Craft AW: Cytogenetic analysis of a congenital fibrosarcoma. Cancer Genet Cytogenet 1991, 52:37-41
18. Argyle JC, Tomlinson GE, Stewart D, Schneider NR: Ultrastructural, immunocytochemical, and cytogenetic characterization of a large congenital fibrosarcoma. Arch Pathol Lab Med 1992, 116:972-975
19. Dal Cin P, Brock P, Casteels-Van Daele M, De Wever I, Van Damme B, Van den Berghe H: Cytogenetic characterization of congenital or infantile fibrosarcoma. Eur J Pediatr 1991, 150:579-581
20. Gorman PA, Malone M, Pritchard J, Sheer D: Deletion of part of the short arm of chromosome 17 in a congenital fibrosarcoma. Cancer Genet Cytogenet 1990, 48:193-198
21. Mandahl N, Heim S, Rydholm A, Willen H, Mitelman F: Nonrandom numerical chromosome aberrations (+8, +11, +17, +20) in infantile fibrosarcoma. Cancer Genet Cytogenet 1989, 40:137-139
22. Sankary S, Dickman PS, Wiener E, Robichaux W, Swaney WP, Malone PS, Gollin SM: Consistent numerical chromosome aberrations in congenital fibrosarcoma. Cancer Genet Cytogenet 1993, 65:152-156
23. Speleman F, Dal Cin P, De Potter K, Laureys G, Roels HJ, Leroy J, Van Den Berghe H: Cytogenetic investigation of a case of congenital fibrosarcoma. Cancer Genet Cytogenet 1989, 39:21-24
24. Mascarello JT, Cajulis TR, Krous HF, Carpenter PM: Presence or absence of trisomy 11 is correlated with histologic subtype in congenital mesoblastic nephroma. Cancer Genet Cytogenet 1994, 77: 50-54
25. Knezevich SR, McFadden DE, Tao W, Lim JF, Sorensen PH: A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma. Nature Genet 1998, 18:184-187
26. Fletcher JA, Kozakewich HP, Hoffer FA, Lage JM, Weidner N, Tepper R, Pinkus GS, Morton CC, Corson JM: Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors. N Engl J Med 1991, 324:436-442
27. Xiao S, Renshaw AA, Cibas ES, Hudson TJ, Fletcher JA: Novel fluorescence in situ hybridization approaches in solid tumors: characterization of frozen specimens, touch preparations, and cytological preparations. Am J Pathol 1995, 147:896-904
28. Hopman AH, Ramaekers FC, Raap AK, Beck JL, Devilee P, van der Ploeg M, Voojis GP: In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumors. Histochemistry 1988, 89:307-316
29. Carroll M, Tomasson MH, Barker GF, Golub TR, Gilliland DG: The TEL/platelet-derived growth factor β receptor (PDGFβR) fusion in chronic myelomonocytic leukemia is a transforming protein that self-associates and activates PDGFβR kinase-dependent signaling pathways. Proc Natl Acad Sci USA 1996, 93:14845-14850
30. Delattre O, Zucman J, Melot T, Garau XS, Zucker JM, Lenoir GM, Ambros PF, Sheer D, Turc-Carel C, Triche TJ, Aurias A, Thomas G: The Ewing family of tumors: a subgroup of small-round-cell tumors defined by specific chimeric transcripts. N Engl J Med 1994, 331: 294-299
31. Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minloletti F, Coindre JM, Terrier-Lacomb MJ, Mandahl N, Craver RD, Blin N, Sozzi G, Turc-Carel C, O'Brien KP, Kedra D, Fransson I, Guilbaud C, Dumanski JP: Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nature Genet 1997, 15: 95-98
32. Rabbitts TH: Chromosomal translocations in human cancer. Nature 1994, 372:143-149
33. Balsaver AM, Butler JJ, Martin RG: Congenital fibrosarcoma. Cancer 1967, 20:1607-1616
34. Chung EB, Enzinger FM: Infantile fibrosarcoma. Cancer 1976, 38: 729-739
35. Dahl I, Save-Soderbergh J, Angervall L: Fibrosarcoma in early infancy. Pathol Eur 1973, 8:193-209
36. Hays DM, Mirabal VQ, Karlan MS, Patel HR, Landing BH: Fibrosarcomas in infants and children. J Pediatr Surg 1970, 5:176-183
37. Papadopoulos P, Ridge SA, Boucher CA, Stocking C, Wiedemann LM: The novel activation of ABL by fusion to an ets-related gene, TEL. Cancer Res 1995, 55:34-38
38. Golub TR, Barker GF, Lovett M, Gilliland DG: Fusion of PDGF receptor β to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 1994, 77:307-316
39. Peeters P, Raynaud SD, Cols J, Wlodarska I, Grosgeorge J, Philip P, Monpoux F, Van Rompaey L, Baens M, Van den Berghe H, Marynen P: Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia. Blood 1997, 90:2535-2540
40. Okuda K, Golub TR, Gilliland DG, Griffin JD: p210BCR/ABL, p190BCR/ABL, and TEL/ABL activate similar signal transduction pathways in hematopoietic cell lines. Oncogene 1996, 13:1147-1152
41. Golub TR, Goga A, Barker GF, Afar DE, McLaughlin J, Bohlander SK, Rowley JD, Witte ON, Gilliland DG: Oligomerization of the ABL tyrosine kinase by the Ets protein TEL in human leukemia. Mol Cell Biol 1996, 16:4107-4116
42. Stephens RM, Loeb DM, Copeland TD, Pawson T, Greene LA, Kaplan DR: Trk receptors use redundant signal transduction pathways involving SHC and PLC-gamma 1 to mediate NGF responses. Neuron 1994, 12:691-705
43. Lamballe F, Klein R, Barbacid M: trkC, a new member of the trk family of tyrosine protein kinases, is a receptor for neurotrophin-3. Cell 1991, 66:967-979
44. Shelton DL, Sutherland J, Gripp J, Camerato T, Armanini MP, Phillips HS, Carroll K, Spencer SD, Levinson AD: Human trks: molecular cloning, tissue distribution, and expression of extracellular domain immunoadhesins. J Neurosci 1995, 15:477-491
45. Chesi M, Nardini E, Brents LA, Schrock E, Ried T, Kuehl WM, Bergsagel PL: Frequent translocation t(4;14)(p16.3;q32.2) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. Nature Genet 1997, 16: 260-264