PMID- 31611201
OWN - NLM
STAT- MEDLINE
DCOM- 20200220
LR  - 20200220
IS  - 1550-8080 (Electronic)
IS  - 0091-7370 (Linking)
VI  - 49
IP  - 5
DP  - 2019 Sep
TI  - Validation of Fluorescence in situ Hybridization Testing of USP6 Gene 
      Rearrangement for Diagnosis of Primary Aneurysmal Bone Cyst.
PG  - 590-597
AB  - GOALS: Ubiquitin specific protease 6 (USP6) gene rearrangement has been reported 
      in approximately 70%-75% of aneurysmal bone cyst cases. We hypothesize that 
      fluorescence in situ hybridization (FISH) testing of this marker will be useful 
      in the pathological differentiation of primary aneurysmal bone cyst (ABC), 
      secondary ABC, giant cell tumor of bone (GCT), and telangiectatic osteosarcoma 
      (TOS) which are morphologically similar. This study aims to evaluate the efficacy 
      of this test and validate it for diagnostic use. PROCEDURES: FISH was performed 
      in primary ABC, secondary ABC, GCT and TOS using dual color USP6 gene break apart 
      probes. The sensitivity, specificity, positive predictive value, and negative 
      predictive values were calculated. RESULTS: Primary ABC demonstrates USP6 
      rearrangement. All secondary ABC, GCT and TOS were negative. The test sensitivity 
      and specificity in primary ABC were 53% (9/17) and 100% (18/18), respectively. 
      The positive predictive value and negative predictive value were 100% (9/9) and 
      69% (18/26), respectively. CONCLUSION: The USP6 gene break apart detected by FISH 
      is validated as a novel diagnostic tool for primary ABC in our laboratory. This 
      test could be used to study the predictive value of USP6 targeted therapy for 
      primary ABC in the near future.
CI  - (c) 2019 by the Association of Clinical Scientists, Inc.
FAU - Li, Lan
AU  - Li L
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, China.
FAU - Bui, Marilyn M
AU  - Bui MM
AD  - Department of Pathology, Moffitt Cancer Center, Tampa, FL, USA.
FAU - Zhang, Ming
AU  - Zhang M
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, China.
FAU - Sun, Xiaoqi
AU  - Sun X
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, China.
FAU - Han, Gang
AU  - Han G
AD  - Department of Biostatistics, School of Public Health, Texas A&M University, 
      Texas, USA.
FAU - Zhang, Tingting
AU  - Zhang T
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, China.
FAU - Huang, Xiaoyuan
AU  - Huang X
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, China.
FAU - Ding, Yi
AU  - Ding Y
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, China bootman@sina.com.
LA  - eng
PT  - Journal Article
PT  - Validation Study
PL  - United States
TA  - Ann Clin Lab Sci
JT  - Annals of clinical and laboratory science
JID - 0410247
RN  - EC 3.4.19.12 (USP6 protein, human)
RN  - EC 3.4.19.12 (Ubiquitin Thiolesterase)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Bone Cysts, Aneurysmal/*diagnosis/*genetics/pathology
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - *Gene Rearrangement
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Male
MH  - Ubiquitin Thiolesterase/*genetics
MH  - Young Adult
OTO - NOTNLM
OT  - Aneurysmal bone cyst
OT  - Fluorescence in situ hybridization
OT  - Giant cell tumor of bone
OT  - USP6 gene
EDAT- 2019/10/16 06:00
MHDA- 2020/02/23 06:00
CRDT- 2019/10/16 06:00
PHST- 2019/10/16 06:00 [entrez]
PHST- 2019/10/16 06:00 [pubmed]
PHST- 2020/02/23 06:00 [medline]
AID - 49/5/590 [pii]
PST - ppublish
SO  - Ann Clin Lab Sci. 2019 Sep;49(5):590-597.