We report the 4th case of a primitive round cell sarcoma with the translocation (4;19)(q35;q13.1) as the primary cytogenetic abnormality. This undifferentiated sarcoma shows some features of Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET), including a diffuse reactivity for FLI1, but it shows only focal and weak reactivity for CD99 and is negative for a rearrangement of EWS, the molecular signature of ES/PNET. Recognition of the histopathologic and cytogenetic features of this entity is necessary to avoid its misdiagnosis as ES/PNET, especially in small biopsy samples.
MitelmanF, ed. An International System for Human Cytogenetic Nomenclature. Basel, Switzerland: S. Karger, 1995.
3.
RichkindKERomanskySGFinklesteinJZ. t(4;19)(q35;q13.1): a recurrent change in primitive mesenchymal tumors?Cancer Genet Cytogenet1996;87:71–74.
4.
Kawamura-SaitoMYamazakiYKanekoK. Fusion between CIC and DUX4 up-regulates PEA3 family genes in Ewing-like sarcomas with t(4;19)(q35;q13) translocation. Hum Mol Genet2006;15:2125–2137.
5.
RobertsPBrowneCFLewisIJ. 12q13 abnormality in rhabdomyosarcoma. A nonrandom occurrence?Cancer Genet Cytogenet1992;60:135–140.
6.
UrumovIJManolovaY. Cytogenetic analysis of an embryonal rhabdomyosarcoma cell line. Cancer Genet Cytogenet1992;61:214–215.
7.
ArvandADennyCT. Biology of EWS/ETS fusions in Ewing's family tumors. Oncogene2001;20:5747–5754.
8.
DelattreOZucmanJPlougastelB. Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. Nature1992;359:162–165.
9.
ZucmanJMelotTDesmazeC. Combinatorial generation of variable fusion proteins in the Ewing family of tumours. EMBO J1993;12:4481–4487.
10.
JeonISDavisJNBraunBS. A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1. Oncogene1995;10:1229–1234.
11.
KanekoYYoshidaKHandaM. Fusion of an ETS-family gene, EIAF, to EWS by t(17;22)(q12;q12) chromosome translocation in an undifferentiated sarcoma of infancy. Genes Chromosomes Cancer1996;15:115–121.
12.
PeterMCouturierJPacquementH. A new member of the ETS family fused to EWS in Ewing tumors. Oncogene1997;14:1159–1164.
13.
ShingDCMcMullanDJRobertsP. FUS/ERG gene fusions in Ewing's tumors. Cancer Res2003;63:4568–4576.
14.
JanknechtR. EWS-ETS oncoproteins: the linchpins of Ewing tumors. Gene2005;363:1–14.
15.
GrierHEKrailoMDTarbellNJ. Addition of ifosfamide and etoposide to standard chemotherapy for Ewing's sarcoma and primitive neuroectodermal tumor of bone. N Engl J Med2003;348:694–701.
16.
LeeCJChanWICheungM. CIC, a member of a novel subfamily of the HMG-box superfamily, is transiently expressed in developing granule neurons. Brain Res Mol Brain Res2002;106:151–156.
17.
LeeCJChanWIScottingPJ. CIC, a gene involved in cerebellar development and ErbB signaling, is significantly expressed in medulloblastomas. J Neurooncol2005;73:101–108.
18.
TsengASTaponNKandaH. Capicua regulates cell proliferation downstream of the receptor tyrosine kinase/ras signaling pathway. Curr Biol2007;17:728–733.
19.
van DeutekomJCWijmengaCvan TienhovenEA. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet1993;2:2037–2042.
20.
GabrielsJBeckersMCDingH. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene1999;236:25–32.
21.
KowaljowVMarcowyczAAnsseauE. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul Disord2007;17:611–623.
22.
LucasDRBentleyGDanMETabaczkaPPoulikJMMottMP. Ewing sarcoma vs lymphoblastic lymphoma. A comparative immunohistochemical study. Am J Clin Pathol2001;115:11–17.
23.
FolpeALHillCEParhamDMO'SheaPAWeissSW. Immunohistochemical detection of FLI-1 protein expression: a study of 132 round cell tumors with emphasis on CD99-positive mimics of Ewing's sarcoma/primitive neuroectodermal tumor. Am J Surg Pathol2000;24:1657–1662.
