PMID- 24185117
OWN - NLM
STAT- MEDLINE
DCOM- 20150410
LR  - 20161020
IS  - 1533-4058 (Electronic)
IS  - 1533-4058 (Linking)
VI  - 22
IP  - 7
DP  - 2014 Aug
TI  - Extraskeletal myxoid chondrosarcoma of the vulva with PLAG1 gene activation: 
      molecular genetic characterization of 2 cases.
PG  - 537-42
LID - 10.1097/PAI.0b013e31829852e7 [doi]
AB  - Extraskeletal myxoid chondrosarcoma (EMC) is a rare mesenchymal neoplasm, rarely 
      reported in the genitourinary tract with only 5 cases reported in the vulva. We 
      investigated 2 cases of vulvar sarcomas whose morphologic appearance and 
      immunohistochemical profiles were consistent with EMC using fluorescence in situ 
      hybridization (FISH), reverse-transcription polymerase chain reaction, and a 
      whole genome expression array. FISH and reverse-transcription polymerase chain 
      reaction assays showed no EWSR1 and NR4A3 loci rearrangements. Microarray-based 
      analysis also revealed no changes in NR4A3 and EWSR1 gene transcription levels. 
      Microarray data showed a significant downregulation of the muscle-related genes 
      (eg, myosin heavy chain family, actins, myoglobin, desmin, creatine kinase, 
      troponins) and cytokeratins (KRT6A, 6B, 13, 14, and 78), upregulation of several 
      neuron-specific genes [neural cell adhesion molecule 1 (NCAM-1/CD56), 
      neurofilament (NEFH)], along with some well-characterized tumor biomarkers 
      [carbonic anhydrase IX (CA-9), topoisomerase IIalpha (TOP2A), matrix 
      metalloproteinases (MMP-7, MMP-9), CDKN2 gene (p16-INK4a), checkpoint homolog 2 
      (CHEK2)]. Notably, both tumors showed upregulation of the pleomorphic adenoma 
      gene 1 (PLAG1), and in 1 case PLAG1 gene rearrangement was detected by 
      break-apart FISH. Some vulvar tumors with morphologic and immunohistochemical 
      characteristics of EMC may represent a molecular genetic entity separate from 
      EMCs arising in other locations. PLAG1 gene activation appears to be involved in 
      the development of these neoplasms.
FAU - Dotlic, Snjezana
AU  - Dotlic S
AD  - *Department of Pathology and Cytology  parallelDepartment of Obstetrics and Gynecology, 
      University Hospital Center Zagreb  section signDepartment of Pathology, University of Zagreb 
      Medical School, Zagreb, Croatia daggerCaris Life Sciences, Phoenix, AZ double daggerRobert Jones 
      and Agnes Hunt Orthopaedic and District Hospital, Oswestry and Royal Orthopaedic 
      Hospital, Birmingham, UK  paragraph signDepartment of Pathology, Clinical Center of the 
      University of Sarajevo, Sarajevo, Bosnia and Herzegovina.
FAU - Gatalica, Zoran
AU  - Gatalica Z
FAU - Wen, Wenhsiang
AU  - Wen W
FAU - Ghazalpour, Anatole
AU  - Ghazalpour A
FAU - Mangham, Chas
AU  - Mangham C
FAU - Babic, Damir
AU  - Babic D
FAU - Zekan, Josko
AU  - Zekan J
FAU - Vranic, Semir
AU  - Vranic S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Appl Immunohistochem Mol Morphol
JT  - Applied immunohistochemistry & molecular morphology : AIMM
JID - 100888796
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (PLAG1 protein, human)
RN  - Chondrosarcoma, Extraskeletal Myxoid
SB  - IM
MH  - *Chondrosarcoma/genetics/metabolism/pathology
MH  - *DNA-Binding Proteins/biosynthesis/genetics
MH  - Female
MH  - *Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Middle Aged
MH  - *Neoplasm Proteins/biosynthesis/genetics
MH  - *Neoplasms, Connective and Soft Tissue/genetics/metabolism/pathology
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - *Vulvar Neoplasms/genetics/metabolism/pathology
EDAT- 2013/11/05 06:00
MHDA- 2015/04/11 06:00
CRDT- 2013/11/05 06:00
PHST- 2013/11/05 06:00 [entrez]
PHST- 2013/11/05 06:00 [pubmed]
PHST- 2015/04/11 06:00 [medline]
AID - 10.1097/PAI.0b013e31829852e7 [doi]
PST - ppublish
SO  - Appl Immunohistochem Mol Morphol. 2014 Aug;22(7):537-42. doi: 
      10.1097/PAI.0b013e31829852e7.