PMID- 28535796
OWN - NLM
STAT- MEDLINE
DCOM- 20180319
LR  - 20181113
IS  - 1750-1172 (Electronic)
IS  - 1750-1172 (Linking)
VI  - 12
IP  - 1
DP  - 2017 May 23
TI  - Identification of EML4-ALK as an alternative fusion gene in epithelioid 
      inflammatory myofibroblastic sarcoma.
PG  - 97
LID - 10.1186/s13023-017-0647-8 [doi]
LID - 97
AB  - BACKGROUND: Known as solid tumors of intermediate malignant potential, most 
      inflammatory myofibroblastic tumors (IMTs) are treatable as long as the tumor is 
      en-bloc resected. However, in some cases, the tumors have recurred and grown 
      rapidly after successful surgery. Some of these tumors were classified as an 
      epithelioid inflammatory myofibroblastic sarcoma (EIMS). Most previously reported 
      EIMSs have been caused by RANBP2-ALK fusion gene. We herein report an EIMS case 
      caused by an EML4-ALK fusion gene. METHODS: RNAseq was conducted to find out the 
      new ALK fusion gene which could not be detected following previously reported 
      RT-PCR methods for EIMS cases with RANBP2-ALK fusion gene. After that, RT-PCR was 
      also conducted to further prove the newly found fusion gene. Immunohistochemistry 
      (IHC) and fluorescence in situ hybridization (FISH) test were applied to find out 
      the unique morphological characters compared with the previous reported EIMS 
      cases. RESULTS: We found an EIMS case who was suffering from a rapid recurrence 
      after cytoreducyive surgery was done to relieve the exacerbating symptoms. The 
      patient finally died for tumor lysis syndrome after the application of 
      crizotinib. Distinctive ALK staining under the membrane and relatively weak ALK 
      staining in the cytoplasm could also be observed. RNAseq and RT-PCR further 
      revealed that the tumor harbored an EML4-ALK fusion gene. CONCLUSION: In 
      conclusion, this is the first EIMS demonstrated to have been caused by the 
      formation of an EML4-ALK fusion gene. This enriches the spectrum of EIMS and 
      enlarges the horizon for the study of EIMS. The experience we shared in managing 
      this kind of disease by discussing aspects of its success and failure could be of 
      great value for surgeons and pathologists.
FAU - Jiang, Quan
AU  - Jiang Q
AD  - Departments of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, 
      200032, China.
FAU - Tong, Han-Xing
AU  - Tong HX
AD  - Departments of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, 
      200032, China.
FAU - Hou, Ying-Yong
AU  - Hou YY
AD  - Departments of Pathology, Zhongshan Hospital, Fudan University, Shanghai, 200032, 
      China.
FAU - Zhang, Yong
AU  - Zhang Y
AD  - Departments of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, 
      200032, China.
FAU - Li, Jing-Lei
AU  - Li JL
AD  - Departments of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, 
      200032, China.
FAU - Zhou, Yu-Hong
AU  - Zhou YH
AD  - Departments of Oncology, Zhongshan Hospital, Fudan University, Shanghai, 200032, 
      China.
FAU - Xu, Jing
AU  - Xu J
AD  - Departments of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, 
      200032, China.
FAU - Wang, Jiong-Yuan
AU  - Wang JY
AD  - Departments of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, 
      200032, China.
FAU - Lu, Wei-Qi
AU  - Lu WQ
AD  - Departments of General Surgery, Zhongshan Hospital, Fudan University, Shanghai, 
      200032, China. lu.weiqi@zs-hospital.sh.cn.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20170523
PL  - England
TA  - Orphanet J Rare Dis
JT  - Orphanet journal of rare diseases
JID - 101266602
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (EML4-ALK fusion protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
SB  - IM
MH  - Base Sequence
MH  - Biomarkers, Tumor/*genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Neoplasms, Muscle Tissue/diagnostic imaging/*genetics/surgery
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Sarcoma/diagnostic imaging/*genetics/surgery
PMC - PMC5442869
OTO - NOTNLM
OT  - EML4-ALK
OT  - Epithelioid inflammatory myofibroblastic sarcoma (EIMS)
OT  - Inflammatory myofibroblastic tumors (IMTs)
OT  - RANBP2-ALK
OT  - RNAseq
EDAT- 2017/05/26 06:00
MHDA- 2018/03/20 06:00
PMCR- 2017/05/23
CRDT- 2017/05/25 06:00
PHST- 2017/01/25 00:00 [received]
PHST- 2017/05/03 00:00 [accepted]
PHST- 2017/05/25 06:00 [entrez]
PHST- 2017/05/26 06:00 [pubmed]
PHST- 2018/03/20 06:00 [medline]
PHST- 2017/05/23 00:00 [pmc-release]
AID - 10.1186/s13023-017-0647-8 [pii]
AID - 647 [pii]
AID - 10.1186/s13023-017-0647-8 [doi]
PST - epublish
SO  - Orphanet J Rare Dis. 2017 May 23;12(1):97. doi: 10.1186/s13023-017-0647-8.