PMID- 23887164
OWN - NLM
STAT- MEDLINE
DCOM- 20131125
LR  - 20151119
IS  - 1532-0979 (Electronic)
IS  - 0147-5185 (Linking)
VI  - 37
IP  - 9
DP  - 2013 Sep
TI  - Undifferentiated small round cell sarcoma with t(4;19)(q35;q13.1) CIC-DUX4 
      fusion: a novel highly aggressive soft tissue tumor with distinctive 
      histopathology.
PG  - 1379-86
LID - 10.1097/PAS.0b013e318297a57d [doi]
AB  - A subset of small round cell sarcomas remains difficult to classify. Among these, 
      a rare tumor harboring a t(4;19)(q35;q13.1) with CIC-DUX4 fusion has been 
      described. The aim of this study is to better understand its clinicopathologic 
      features. Four cases of CIC-DUX4 sarcoma, all arising in adults (3 women, 1 man, 
      aged 20 to 43 y), were identified using conventional cytogenetic, reverse 
      transcription polymerase chain reaction (RT-PCR) and fluorescence in situ 
      hybridization (FISH) methods. All 4 tumors demonstrated CIC-DUX4 fusion 
      transcript by both RT-PCR and FISH and CIC rearrangement by FISH. Cytogenetic 
      results from 2 tumors showed t(4;19)(q35;q13.1) occurring as part of a simple 
      karyotype in 1 tumor and as part of a complex karyotype in the other, the latter 
      from a postchemotherapy specimen. Both tumors harbored trisomy 8 and lacked any 
      other known sarcoma-associated translocation. No EWS or SYT rearrangements were 
      detected by RT-PCR or FISH. The tumors had small round cell morphology with a 
      distinctive constellation of histologic features including extensive geographic 
      necrosis, mild nuclear pleomorphism with coarse chromatin and prominent nucleoli, 
      clear cell areas, and focal myxoid matrix. Only focal staining for CD99 was 
      present in each tumor. Two had very focal cytokeratin staining. All tumors were 
      negative for desmin, myogenin, TLE-1, and S100 protein, whereas nuclear INI-1 
      staining was retained. The tumors were highly aggressive, and all patients died 
      of disseminated disease within 16.8 months. CIC-DUX4 sarcoma represents a novel 
      translocation-associated sarcoma with distinctive histopathologic features and 
      rapid disease progression.
FAU - Choi, Eun-Young Karen
AU  - Choi EY
AD  - Departments of *Pathology daggerInternal Medicine double daggerOrthopedic Surgery, University of 
      Michigan, Ann Arbor, MI.
FAU - Thomas, Dafydd G
AU  - Thomas DG
FAU - McHugh, Jonathan B
AU  - McHugh JB
FAU - Patel, Rajiv M
AU  - Patel RM
FAU - Roulston, Diane
AU  - Roulston D
FAU - Schuetze, Scott M
AU  - Schuetze SM
FAU - Chugh, Rashmi
AU  - Chugh R
FAU - Biermann, Janet Sybil
AU  - Biermann JS
FAU - Lucas, David R
AU  - Lucas DR
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (CIC-DUX4 fusion protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
SB  - IM
MH  - Adult
MH  - Biomarkers, Tumor/analysis/*genetics
MH  - *Cell Differentiation
MH  - *Chromosomes, Human
MH  - Disease Progression
MH  - Female
MH  - Gene Rearrangement
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sarcoma, Small Cell/chemistry/*genetics/*pathology
MH  - Soft Tissue Neoplasms/chemistry/*genetics/*pathology
MH  - *Translocation, Genetic
MH  - Young Adult
EDAT- 2013/07/28 06:00
MHDA- 2013/12/16 06:00
CRDT- 2013/07/27 06:00
PHST- 2013/07/27 06:00 [entrez]
PHST- 2013/07/28 06:00 [pubmed]
PHST- 2013/12/16 06:00 [medline]
AID - 10.1097/PAS.0b013e318297a57d [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2013 Sep;37(9):1379-86. doi: 10.1097/PAS.0b013e318297a57d.