congenital fibrosarcoma

Localization

 soft tissues
 digestive congenital fibrosarcoma

• duodenal congenital fibrosarcoma (1185470)
• jejunal congenital fibrosarcoma (12776248)
• ileal congenital fibrosarcoma
• colonic congenital fibrosarcoma

Cytogenetics

 translocation t(12;15)(p13;q25) with ETV6/NTRK3 fusion gene
 trisomy 11 (1524466)
 trisomy 8
 trisomy 17
 trisomy 20 (1524466)

Molecular biology

 ETV6/NTRK3 fusion gene by translocation t(12;15)(p13;q25)

Open references

 ETV6 rearrangements in patients with infantile fibrosarcomas and congenital mesoblastic nephromas by fluorescence in situ hybridization. Adem C, Gisselsson D, Dal Cin P, Nascimento AG. Mod Pathol. 2001 Dec;14(12):1246-51. PMID: 11743047 [Free]

 Congenital-infantile fibrosarcoma. A clinicopathologic study of 10 cases and molecular detection of the ETV6-NTRK3 fusion transcripts using paraffin-embedded tissues. Sheng WQ, Hisaoka M, Okamoto S, Tanaka A, Meis-Kindblom JM, Kindblom LG, Ishida T, Nojima T, Hashimoto H. Am J Clin Pathol. 2001 Mar;115(3):348-55. PMID: 11242790 [Free]

 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. Argani P, Fritsch M, Kadkol SS, Schuster A, Beckwith JB, Perlman EJ. Mod Pathol. 2000 Jan;13(1):29-36. PMID: 10658907 [Free]

 Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma. Rubin BP, Chen CJ, Morgan TW, Xiao S, Grier HE, Kozakewich HP, Perez-Atayde AR, Fletcher JA. Am J Pathol. 1998 Nov;153(5):1451-8. PMID: 9811336 [Free]

 ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma. Knezevich SR, Garnett MJ, Pysher TJ, Beckwith JB, Grundy PE, Sorensen PH. Cancer Res. 1998 Nov 15;58(22):5046-8. PMID: 9823307 [Free]

References

 Bourgeois JM, Knezevich SR, Mathers JA, Sorensen PH. Molecular detection of the ETV6-NTRK3 gene fusion differentiates congenital fibrosarcoma from other childhood spindle cell tumors. Am J Surg Pathol. 2000 Jul;24(7):937-46. PMID: 10895816

 Argyle JC, Tomlinson GE, Stewart D, Schneider NR. Ultrastructural, immunocytochemical, and cytogenetic characterization of a large congenital fibrosarcoma. Arch Pathol Lab Med. 1992 Sep;116(9):972-5. PMID: 1524466

 A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma. Knezevich SR, McFadden DE, Tao W, Lim JF, Sorensen PH. Nat Genet. 1998 Feb;18(2):184-7. PMID: 9462753