Ewing-like sarcoma

IHC

 BCOR Overexpression Is a Highly Sensitive Marker in Round Cell Sarcomas With BCOR Genetic Abnormalities. (27428733)

Molecular biology

 BCOR-CCNB3 gene fusion (22387997)

• CCNB3 immunohistochemistry is a powerful diagnostic marker for this subgroup of sarcoma and that overexpression of BCOR-CCNB3 or of truncated CCNB3 activates S phase in NIH3T3 cells.
• The intrachromosomal X-chromosome fusion represents a new subtype of bone sarcoma caused by a newly identified gene fusion mechanism.

 BCOR-MAML3 gene fusion (26752546)

 BCOR internal tandem duplications (ITD) in Ewing-like sarcoma (27000436)

 BCOR- ZC3H7B gene fusion (26752546)

 CIC-DUX4 fusion gene

• fusion gene between DUX4 at 4q35 (MIM.606009) and CIC at 19q35 by t(4;19)(q35;q13) (16717057)
• CIC, a human homolog of Drosophila capicua which encodes a high mobility group box transcription factor, is fused to a double homeodomain gene DUX4 as a result of a recurrent chromosomal translocation t(4;19)(q35;q13).
• t(4;19)(q35;q13) creating a fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation.
• fusion gene between DUX4 at 4q35 (MIM.606009) and CIC at 19q35 by t(4;19)(q35;q13) (16717057)
• CIC, a human homolog of Drosophila capicua which encodes a high mobility group box transcription factor, is fused to a double homeodomain gene DUX4 as a result of a recurrent chromosomal translocation t(4;19)(q35;q13).

- expression

• Studies report a distinctive gene expression profile for these sarcomas, including expression of E26 transformation specific ETS-family protooncogenic transcription factors ETV1, ETV4, and ETV5.
• To test the utility of an ancillary diagnostic technique for these tumors, we evaluated chromogenic RNA in situ hybridization assays for ETV1 , ETV4 , and ETV5 , as diagnostic adjuncts for this emerging group of highly malignant sarcomas.

See also

 D4Z4

Paywall References

 Recurrent BCOR Internal Tandem Duplication and YWHAE-NUTM2B Fusions in Soft Tissue Undifferentiated Round Cell Sarcoma of Infancy: Overlapping Genetic Features With Clear Cell Sarcoma of Kidney.
Kao YC, Sung YS, Zhang L, Huang SC, Argani P, Chung CT, Graf NS, Wright DC, Kellie SJ, Agaram NP, Ludwig K, Zin A, Alaggio R, Antonescu CR.
Am J Surg Pathol. 2016 Aug;40(8):1009-20. doi : 10.1097/PAS.0000000000000629
PMID: 26945340

 BCOR Overexpression Is a Highly Sensitive Marker in Round Cell Sarcomas With BCOR Genetic Abnormalities.
Kao YC, Sung YS, Zhang L, Jungbluth AA, Huang SC, Argani P, Agaram NP, Zin A, Alaggio R, Antonescu CR.
Am J Surg Pathol. 2016 Jul 13.
PMID: 27428733

 Mutually exclusive BCOR internal tandem duplications and YWHAE-NUTM2 fusions in clear cell sarcoma of kidney: not the full story. Kenny C, Bausenwein S, Lazaro A, Furtwängler R, Gooskens SL, van den Heuvel Eibrink M, Vokuhl C, Leuschner I, Graf N, Gessler M, O’Sullivan MJ.
J Pathol. 2016 Apr;238(5):617-20. doi : 10.1002/path.4693
PMID: 27000436

 Kawamura-Saito M, Yamazaki Y, Kaneko K, Kawaguchi N, Kanda H, Mukai H, Gotoh T, Motoi T, Fukayama M, Aburatani H, Takizawa T, Nakamura T. Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation. Hum Mol Genet. 2006 Jul 1;15(13):2125-37. PMID: 16717057