PMID- 32026485
OWN - NLM
STAT- MEDLINE
DCOM- 20210303
LR  - 20210303
IS  - 1600-0560 (Electronic)
IS  - 0303-6987 (Linking)
VI  - 47
IP  - 6
DP  - 2020 Jun
TI  - Superficial sarcomas with CIC rearrangement are aggressive neoplasms: A series of 
      eight cases.
PG  - 509-516
LID - 10.1111/cup.13656 [doi]
AB  - CIC rearranged sarcomas have significant overlap with Ewing sarcoma, are 
      aggressive, and typically present in deep soft tissue. They most commonly have a 
      t(4;19)(q35;q13) with CIC-DUX4 fusion. Superficial presentation is rare. We 
      report eight (6F, 2M; median 45-years-old, range 14-65) superficial 
      CIC-rearranged sarcomas, involving the extremities (n = 4), vulva (n = 2), and 
      trunk (n = 2). The tumors were composed of nodules/sheets of round cells with 
      necrosis and hemorrhage separated by dense hyaline bands. Tumor cells had 
      vesicular chromatin, prominent nucleoli and frequent mitotic figures. One showed 
      pagetoid spread. Targeted next-generation sequencing was positive for CIC-DUX4 
      fusion (6/6); fluorescence in situ hybridization (FISH) was positive for CIC 
      rearrangement (2/3). Eight of eight had evidence of CIC-DUX4 fusion/rearrangement 
      by molecular techniques. Immunohistochemistry was positive for CD99+ (8/8) and 
      DUX4+ (4/4). FISH for EWSR1 rearrangement was negative (5/5). Of five patients 
      with at least 6 months follow-up, three of five died of disease, all within 
      2 years of presentation. One is alive with disease at 48 months. One is disease 
      free at 3 months. Superficial CIC-rearranged sarcomas should be considered in 
      cases exhibiting features reminiscent of Ewing sarcoma, but with increased 
      pleomorphism and/or geographic necrosis. In contrast to superficial Ewing 
      sarcomas, superficial CIC-rearranged sarcomas are aggressive.
CI  - (c) 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - Ko, Jennifer S
AU  - Ko JS
AUID- ORCID: 0000-0003-0629-775X
AD  - Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
FAU - Marusic, Zlatko
AU  - Marusic Z
AD  - Department of Pathology, University Hospital Center Zagreb, Zagreb, Croatia.
FAU - Azzato, Elizabeth M
AU  - Azzato EM
AD  - Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
FAU - Farkas, Daniel H
AU  - Farkas DH
AD  - Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
FAU - Van Arnam, John
AU  - Van Arnam J
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, 
      Minnesota.
FAU - Seiwerth, Sven
AU  - Seiwerth S
AD  - Department of Pathology, University Hospital Center Zagreb, Zagreb, Croatia.
AD  - Department of Pathology, University of Zagreb Medical School, Zagreb, Croatia.
FAU - Fritchie, Karen
AU  - Fritchie K
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, 
      Minnesota.
FAU - Patel, Rajiv M
AU  - Patel RM
AUID- ORCID: 0000-0002-1521-4947
AD  - Department of Pathology and Clinical Labs, Michigan Medicine, University of 
      Michigan, Ann Arbor, Michigan.
FAU - Rubin, Brian P
AU  - Rubin BP
AD  - Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
FAU - Billings, Steven D
AU  - Billings SD
AUID- ORCID: 0000-0002-2278-5908
AD  - Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio.
LA  - eng
PT  - Journal Article
DEP - 20200218
PL  - United States
TA  - J Cutan Pathol
JT  - Journal of cutaneous pathology
JID - 0425124
RN  - 0 (12E7 Antigen)
RN  - 0 (CD99 protein, human)
RN  - 0 (CIC protein, human)
RN  - 0 (CIC-DUX4 fusion protein, human)
RN  - 0 (DUX4L1 protein, human)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Repressor Proteins)
SB  - IM
MH  - 12E7 Antigen/metabolism
MH  - Adolescent
MH  - Adult
MH  - Bone Neoplasms/pathology
MH  - Female
MH  - Gene Rearrangement
MH  - High-Throughput Nucleotide Sequencing/methods
MH  - Homeodomain Proteins/metabolism
MH  - Humans
MH  - Immunohistochemistry/methods
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Repressor Proteins/*genetics
MH  - Sarcoma/*genetics/pathology
MH  - Sarcoma, Ewing/*genetics
MH  - Soft Tissue Neoplasms/pathology
OTO - NOTNLM
OT  - CIC
OT  - CIC-DUX4
OT  - Ewing sarcoma
OT  - cutaneous
OT  - round cell sarcoma
OT  - sarcoma
OT  - superficial
EDAT- 2020/02/07 06:00
MHDA- 2021/03/04 06:00
CRDT- 2020/02/07 06:00
PHST- 2019/10/28 00:00 [received]
PHST- 2020/01/17 00:00 [revised]
PHST- 2020/01/25 00:00 [accepted]
PHST- 2020/02/07 06:00 [pubmed]
PHST- 2021/03/04 06:00 [medline]
PHST- 2020/02/07 06:00 [entrez]
AID - 10.1111/cup.13656 [doi]
PST - ppublish
SO  - J Cutan Pathol. 2020 Jun;47(6):509-516. doi: 10.1111/cup.13656. Epub 2020 Feb 18.