PMID- 21536237
OWN - NLM
STAT- MEDLINE
DCOM- 20110706
LR  - 20200113
IS  - 2210-7762 (Print)
VI  - 204
IP  - 4
DP  - 2011 Apr
TI  - Unknown partner for USP6 and unusual SS18 rearrangement detected by fluorescence 
      in situ hybridization in a solid aneurysmal bone cyst.
PG  - 195-202
LID - 10.1016/j.cancergen.2011.01.004 [doi]
AB  - USP6 rearrangement is the most common genetic abnormality in primary aneurysmal 
      bone cyst, and SS18 rearrangement has not been previously described in any type 
      of tumor where synovial sarcoma was excluded from the differential diagnosis. We 
      report a case of solid aneurysmal bone cyst in which fluorescence in situ 
      hybridization (FISH) analysis indicated rearrangements of both USP6 and SS18, but 
      histologic features were consistent with aneurysmal bone cyst throughout the 
      lesion. Reverse-transcription polymerase chain reaction (RT-PCR) for the 
      SS18-SSX1 and SS18-SSX2 translocations, identity testing, and SS18 FISH were 
      performed on cytogenetic monolayer cultures and formalin-fixed paraffin-embedded 
      (FFPE) tissue. Genomic microarray, FISH, and immunohistochemistry were performed 
      on follow-up studies of the FFPE specimen. The karyotype was 
      45,X,add(X)(p11.2),add(4)(q13),add(8)(p21),-13,add(17)(p11.2),add(18)(q11.2) in 
      all 20 cells analyzed from monolayer cultures. The karyotype showed no 
      cytogenetically visible alterations of chromosomal regions harboring known 
      partners for USP6. Metaphase FISH with a commercial SS18 break-apart probe showed 
      translocation of the 5' portion of the SS18 probe to the short arm of the 
      derivative X, as is observed in synovial sarcoma. RT-PCR showed no evidence of a 
      SS18-SSX fusion, and immunohistochemistry was negative for TLE1, EMA, and 
      cytokeratin AE1/3 expression. FISH on FFPE sections with a custom break-apart 
      probe flanking USP6 showed evidence for a USP6 rearrangement throughout the tumor 
      (25-50%). FISH on FFPE sections with a commercial SS18 break-apart FISH probe 
      showed more variable results (0-50% split signals). There was no evidence of a 
      SS18-USP6 fusion by FISH or RT-PCR. A molecular inversion probe array revealed a 
      deletion encompassing the entire SS18 gene and its promoter, as well as portions 
      of the region targeted by the commercial SS18 FISH probe. In conclusion, results 
      obtained from commercially available FISH probes may occasionally yield 
      misleading results. In this case, the SS18 rearrangement by FISH resulted from a 
      complex rearrangement of 18q11.2 with a deletion of the SS18 gene. The 
      translocation partner for USP6 remains unknown in this case.
CI  - Copyright (c) 2011 Elsevier Inc. All rights reserved.
FAU - Geiersbach, Katherine
AU  - Geiersbach K
AD  - ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt 
      Lake City, UT, USA. Katherine.geiersbach@aruplab.com
FAU - Rector, Lyndsey S
AU  - Rector LS
FAU - Sederberg, Maria
AU  - Sederberg M
FAU - Hooker, Ana
AU  - Hooker A
FAU - Randall, R Lor
AU  - Randall RL
FAU - Schiffman, Joshua D
AU  - Schiffman JD
FAU - South, Sarah T
AU  - South ST
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Repressor Proteins)
RN  - 0 (SS18 protein, human)
RN  - EC 3.4.19.12 (USP6 protein, human)
RN  - EC 3.4.19.12 (Ubiquitin Thiolesterase)
SB  - IM
MH  - Adult
MH  - Bone Cysts, Aneurysmal/*genetics/pathology
MH  - Female
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Proto-Oncogene Proteins/*genetics
MH  - Repressor Proteins/*genetics
MH  - Translocation, Genetic
MH  - Ubiquitin Thiolesterase/*genetics
EDAT- 2011/05/04 06:00
MHDA- 2011/07/08 06:00
CRDT- 2011/05/04 06:00
PHST- 2010/03/11 00:00 [received]
PHST- 2010/12/12 00:00 [revised]
PHST- 2011/01/27 00:00 [accepted]
PHST- 2011/05/04 06:00 [entrez]
PHST- 2011/05/04 06:00 [pubmed]
PHST- 2011/07/08 06:00 [medline]
AID - S2210-7762(11)00019-6 [pii]
AID - 10.1016/j.cancergen.2011.01.004 [doi]
PST - ppublish
SO  - Cancer Genet. 2011 Apr;204(4):195-202. doi: 10.1016/j.cancergen.2011.01.004.