Molecular detection of the ETV6-NTRK3 gene fusion differentiates congenital fibrosarcoma from other childhood spindle cell tumors

American Journal of Surgical Pathology

Volumn 24, Issue 7, 2000, Pages 937-946

  Bourgeois, Jacqueline M ^a   Knezevich, Stevan R ^b   Mathers, Joan A ^b   Sorensen, Poul H B ^b  

^a MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^b CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

Adult type fibrosarcoma; Congenital fibrosarcoma; Infantile fibromatosis; Spindle cell tumor

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHILDHOOD CANCER; CHROMOSOME 15; CHROMOSOME TRANSLOCATION 12; DIFFERENTIAL DIAGNOSIS; FEMALE; FIBROMATOSIS; FIBROSARCOMA; GENE FUSION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LEIOMYOMA; MAJOR CLINICAL STUDY; MALE; MOLECULAR BIOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPINDLE CELL CARCINOMA;

ADOLESCENT; ADULT; ARTIFICIAL GENE FUSION; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA, NEOPLASM; DNA-BINDING PROTEINS; FEMALE; FIBROMA; FIBROSARCOMA; HUMANS; IMMUNOENZYME TECHNIQUES; INFANT; INFANT, NEWBORN; KARYOTYPING; MALE; MYOFIBROMATOSIS; PROTO-ONCOGENE PROTEINS C-ETS; RECEPTOR, TRKC; REPRESSOR PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SOFT TISSUE NEOPLASMS; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 0033945362     PISSN: 01475185     EISSN: None     Source Type: Journal    
DOI: 10.1097/00000478-200007000-00005     Document Type: Article

References (41)

1. Adam LR, Davison EV, Malcolm AJ, Pearson AD, Craft AW. Cytogenetic analysis of a congenital fibrosarcoma. Cancer Genet Cytogenet 1991;52:37-41.
2. Argani P, Fritsch M, Kadkol SS, Schuster A, Beckwith JB, Perlman EJ. Detection of the ETV6-NTRK3 chimeric RNA of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: application to challenging pediatric renal stromal tumors. Mod Pathol 2000;13:29-36.
3. Argani P, Perez-Ordonez B, Xiao H, Caruana SM, Huvos AG, Ladanyi M. Olfactory neuroblastoma is not related to the Ewing family of tumors: absence of EWS/FLI1 gene fusion and MIC2 expression. Am J Surg Pathol 1998;22:391-8.
4. Argyle JC, Tomlinson GE, Stewart D, Schneider NR. Ultrastructural, immunocytochemical, and cytogenetic characterization of a large congenital fibrosarcoma. Arch Pathol Lab Med 1992;116: 972-5.
5. Barr FG, Chatten J, D'Cruz CM, et al. Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA 1995;273:553-7.
6. Bernstein R, Zeltzer PM, Lin F, Carpenter PM. Trisomy 11 and other nonrandom trisomies in congenital fibrosarcoma. Cancer Genet Cytogenet 1994;78:82-6.
7. Blocker S, Koenig J, Ternberg J. Congenital fibrosarcoma. J Pediatr Surg 1987;22:665-70.
8. Chung EB, Enzinger FM. Infantile fibrosarcoma. Cancer 1976;38: 729-39.
9. Chung EB, Enzinger FM. Infantile myofibromatosis. Cancer 1981; 48:1807-18.
10. Coffin CM, Dehner LP. Fibroblastic-myofibroblastic tumors in children and adolescents: a clinicopathologic study of 108 examples in 103 patients. Pediatr Pathol 1991;11:569-88.
11. Coffin CM, Dehner LP. Soft tissue tumors in first year of life: a report of 190 cases. Pediatr Pathol 1990;10:509-26.
12. Coffin CM, Dehner LP, O'Shea PA. Pediatric Soft Tissue Tumors. Baltimore, MD: Williams and Wilkins, 1997.
13. Coffin CM, Jaszcz W, O'Shea PA, Dehner LP. So-called congenital-infantile fibrosarcoma: does it exist and what is it? Pediatr Pathol 1994;14:133-50.
14. Enzinger FM, Weiss SW. Soft Tissue Tumors. St. Louis, MO: CV Mosby, 1995.
15. Exelby PR, Knapper WH, Huvos AG, Beattie EJ Jr. Soft-tissue fibrosarcoma in children. J Pediatr Surg 1973;8:415-20.
16. Fisher C. Fibromatosis and fibrosarcoma in infancy and childhood. Eur J Cancer 1996;32A:2094-100.
17. Jiang YH, Davidson LA, Lupton JR, Chapkin RS. A rapid RT-PCR method for detection of intact RNA in formalin-fixed paraffin-embedded tissues. Nucl Acids Res 1995;23:3071-2.
18. Knezevich SR, Garnett MJ, Pysher TJ, Beckwith JB, Grundy PE, Sorensen PH. ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma. Cancer Res 1998;58:5046-8.
19. Knezevich SR, McFadden DE, Tao W, Lim JF, Sorensen PH. A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma. Nat Genet 1998;18:184-7.
20. Ladanyi M. The emerging molecular genetics of sarcoma translocations. Diagn Mol Pathol 1995;4:162-73.
21. Lamant L, Meggetto F, Al Saati T, et al. High incidence of the t(2;5)(p23;q35) translocation in anaplastic large cell lymphoma and its lack of detection in Hodgkin's disease. Comparison of cytogenetic analysis, reverse transcriptase-polymerase chain reaction, and P-80 immunostaining. Blood 1996;87:284-91.
22. Mandahl N, Heim S, Rydholm A, Willen H, Mitelman F. Nonrandom numerical chromosome aberrations (+8, +11, +17, +20) in infantile fibrosarcoma [Letter], Cancer Genet Cytogenet 1989;40: 137-9.
23. Mies C. A simple, rapid method for isolating RNA from paraffin-embedded tissues for reverse transcription-polymerase chain reaction (RT-PCR). J Histochem Cytochem 1994;42:811-3.
24. Miser JS, Triche TJ, Kinsella TJ, Pritchard DJ. Other soft tissue sarcomas of childhood. In: Pizzo PA, Poplack DG, eds. Principles and Practice of Pediatric Oncology. Philadelphia, PA: Lippincott-Raven, 1997.
25. Mitelman F. ISCN: An International System for Human Cytogenetic Nomenclature. Basel, Switzerland: Karger, 1995.
26. Morris SW, Kirstein MN, Valentine MB, et al. Fusion of a kinase gene, ALK, to a nucleolar protein gene. NPM, in non-Hodgkin's lymphoma. Science 1994;263:1281-4.
27. Parham DM, ed. Pediatric Neoplasia: Morphology and Biology. Philadelphia, PA: Lippincott-Raven, 1996.
28. Rubin BP, Chen CJ, Morgan TW, et al. Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma. Am J Pathol 1998;153:1451-8.
29. Salloum E, Caillaud JM, Flamant F, Landman J, Lemerle J. Poor prognosis infantile fibrosarcoma with pathologic features of malignant fibrous histiocytoma after local recurrence. Med Pediatr Oncol 1990;18:295-8. See comments.
30. Sandberg AA, Bridge JA. The Cytogenetics of Bone and Soft Tissue Tumors. Austin, TX: RG Landes Co, 1994.
31. 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.
32. Schofield DE, Yunis EJ, Fletcher JA. Chromosome aberrations in mesoblastic nephroma. Am J Pathol 1993;143:714-24.
33. Shibayama E, Koizumi H. Cellular localization of the Trk neurotrophin receptor family in human non-neuronal tissues. Am J Pathol 1996;148:1807-18.
34. Sorensen PHB, Liu XF, Thomas G, et al. Reverse transcriptase PCR amplification of EWS/Fli-1 fusion transcripts as a diagnostic test for peripheral primitive neuroectodermal tumors of childhood. Diagn Mol Pathol 1993;2:147-57.
35. Sorensen PHB, Triche TJ. Gene fusions encoding chimaeric transcription factors in solid tumours. Semin Cancer Biol 1996;7:3-14.
36. Soule EH, Pritchard J. Fibrosarcoma in infants and children. Cancer 1977;40:1711-21.
37. Speleman F, Dal Cin P, De Potter K, et al. Cytogenetic investigation of a case of congenital fibrosarcoma. Cancer Genet Cytogenet 1989;39:21-4.
38. Stout AP. Fibrosarcoma in infants and children. Cancer 1962;15: 1028-40.
39. Triche TJ. Pathology and molecular diagnosis of pediatric malignancies. In: Pizzo PA, Poplack DG, eds. Principles and Practice of Pediatric Oncology, 3rd ed. Philadelphia, PA: Lippincott-Raven, 1997.
40. Triche TJ. Pathology of pediatric malignancies. In: Pizzo PA, Poplack DG, eds. Principles and Practice of Pediatric Oncology, vol 2. Philadelphia, PA: JB Lippincott, 1993:115-52.
41. Wilson MB, Stanley W, Sens D, Garvin AJ. Infantile fibrosarcoma - a misnomer? Pediatr Pathol 1990;10:901-7.