PMID- 30911815
OWN - NLM
STAT- MEDLINE
DCOM- 20190726
LR  - 20200225
IS  - 1432-2307 (Electronic)
IS  - 0945-6317 (Linking)
VI  - 475
IP  - 2
DP  - 2019 Aug
TI  - Targeted RNA-sequencing identifies FBXW4 instead of MGEA5 as fusion partner of 
      TGFBR3 in pleomorphic hyalinizing angiectatic tumor.
PG  - 251-254
LID - 10.1007/s00428-019-02556-2 [doi]
AB  - Pleomorphic hyalinizing angiectatic tumor (PHAT) is a rare mesenchymal tumor of 
      intermediate malignancy. PHAT, and the related hemosiderotic fibrolipomatous 
      tumor, show a recurrent t(1;10)(p22;q24). Fluorescence in situ hybridization 
      (FISH) and BAC (bacterial artificial chromosome) clones have previously 
      identified TGFBR3 and MGEA5 as fusion partners. However, targeted RNA-sequencing 
      allowed for the correct identification of FBXW4 and not MGEA5 as the fusion 
      partner of TGFBR3 in a subcutaneous PHAT, a finding further confirmed by RT-PCR. 
      FBXW4 and MGEA5 share a common cytogenetic location at 10q24.32, thereby 
      suggesting that the use of less precise technology may have led to inaccurate 
      gene identification. The study of additional cases is however required.
FAU - Rougemont, Anne-Laure
AU  - Rougemont AL
AUID- ORCID: 0000-0002-1785-792X
AD  - Division of Clinical P athology, Molecular Pathology Unit, Geneva University 
      Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland. 
      anne-laure.rougemont@hcuge.ch.
FAU - Berczy, Margaret
AU  - Berczy M
AD  - Division of Clinical P athology, Molecular Pathology Unit, Geneva University 
      Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland.
FAU - Lin Marq, Nathalie
AU  - Lin Marq N
AD  - Division of Clinical P athology, Molecular Pathology Unit, Geneva University 
      Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland.
FAU - McKee, Thomas A
AU  - McKee TA
AD  - Division of Clinical P athology, Molecular Pathology Unit, Geneva University 
      Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland.
FAU - Christinat, Yann
AU  - Christinat Y
AD  - Division of Clinical P athology, Molecular Pathology Unit, Geneva University 
      Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva, Switzerland.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20190325
PL  - Germany
TA  - Virchows Arch
JT  - Virchows Archiv : an international journal of pathology
JID - 9423843
RN  - 0 (Antigens, Neoplasm)
RN  - 0 (F-Box Proteins)
RN  - 0 (FBXW4 protein, human)
RN  - 0 (Proteoglycans)
RN  - 0 (Receptors, Transforming Growth Factor beta)
RN  - 145170-29-2 (betaglycan)
RN  - EC 2.3.1.48 (Histone Acetyltransferases)
RN  - EC 3.2.1.169 (OGA protein, human)
RN  - EC 3.2.1.35 (Hyaluronoglucosaminidase)
MH  - Antigens, Neoplasm/*genetics
MH  - F-Box Proteins/genetics
MH  - Histone Acetyltransferases/*genetics
MH  - Humans
MH  - Hyaluronoglucosaminidase/*genetics
MH  - Male
MH  - Middle Aged
MH  - Oncogene Fusion
MH  - Proteoglycans/*genetics
MH  - Receptors, Transforming Growth Factor beta/*genetics
MH  - Sarcoma/*genetics/pathology
MH  - Sequence Analysis, RNA/*methods
MH  - Soft Tissue Neoplasms/*genetics/pathology
OTO - NOTNLM
OT  - Hemosiderotic fibrolipomatous tumor
OT  - Myxoid sarcoma
OT  - PHAT
OT  - Soft tissue
OT  - Translocation
EDAT- 2019/03/27 06:00
MHDA- 2019/07/28 06:00
CRDT- 2019/03/27 06:00
PHST- 2019/01/08 00:00 [received]
PHST- 2019/03/03 00:00 [accepted]
PHST- 2019/02/12 00:00 [revised]
PHST- 2019/03/27 06:00 [pubmed]
PHST- 2019/07/28 06:00 [medline]
PHST- 2019/03/27 06:00 [entrez]
AID - 10.1007/s00428-019-02556-2 [pii]
AID - 10.1007/s00428-019-02556-2 [doi]
PST - ppublish
SO  - Virchows Arch. 2019 Aug;475(2):251-254. doi: 10.1007/s00428-019-02556-2. Epub 
      2019 Mar 25.