PMID- 27346570
OWN - NLM
STAT- MEDLINE
DCOM- 20170828
LR  - 20180114
IS  - 1532-8392 (Electronic)
IS  - 0046-8177 (Linking)
VI  - 57
DP  - 2016 Nov
TI  - Oncocytic variant of malignant gastrointestinal neuroectodermal tumor: a 
      potential diagnostic pitfall.
PG  - 13-16
LID - S0046-8177(16)30127-7 [pii]
LID - 10.1016/j.humpath.2016.05.026 [doi]
AB  - Malignant gastrointestinal neuroectodermal tumor (MGNET) is a very rare, 
      aggressive malignant neoplasm that may occur in any location in the 
      gastrointestinal tract. Malignant gastrointestinal neuroectodermal tumors 
      typically consist of sheet-like to pseudopapillary proliferation of 
      primitive-appearing epithelioid cells with a moderate amount of lightly 
      eosinophilic cytoplasm, round nuclei and small nucleoli, often in association 
      with osteoclast-like giant cells. By immunohistochemistry, these tumors show 
      expression of S100 protein and SOX10, in the absence of expression of more 
      specific melanocytic markers (eg, HMB45, Melan A). Genetically, malignant 
      gastrointestinal neuroectodermal tumors are characterized by rearrangements of 
      the EWSR1 or FUS genes with CREB1 or ATF1. We report a case of gastric malignant 
      gastrointestinal neuroectodermal tumor occurring in a 46-year-old woman and 
      showing striking oncocytic cytoplasmic change, a previously undescribed potential 
      diagnostic pitfall. An initial needle biopsy showed large, eosinophilic cells 
      with S100 protein and SOX10 expression and lacking expression of KIT, DOG1, Melan 
      A, keratin, chromogranin, or smooth muscle actin, and was interpreted as 
      representing a granular cell tumor. The subsequent excision specimen showed 
      similar-appearing areas, but also contained small more primitive-appearing areas, 
      lacking oncocytic change and having high nuclear grade and brisk mitotic 
      activity. This resection specimen was initially diagnosed as a malignant granular 
      cell tumor. However subsequent gene expression profiling studies showed an 
      EWSR1-ATF1 fusion, confirmed with fluorescence in situ hybridization for EWSR1, 
      and a final diagnosis of MGNET with oncocytic change was made. This case 
      highlights a previously undescribed pitfall in the diagnosis of MGNET, oncocytic 
      change, and suggests that MGNET should be included in the differential diagnosis 
      for unusual oncocytic neoplasms of the gastrointestinal tract.
CI  - Copyright (c) 2016 Elsevier Inc. All rights reserved.
FAU - Boland, Jennifer M
AU  - Boland JM
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 
      55905.
FAU - Folpe, Andrew L
AU  - Folpe AL
AD  - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 
      55905. Electronic address: folpe.andrew@mayo.edu.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160623
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (EWSR1-ATF1 fusion protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
SB  - IM
MH  - Biomarkers, Tumor/analysis/genetics
MH  - Biopsy, Needle
MH  - Female
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Middle Aged
MH  - Neuroectodermal Tumors, Primitive, 
      Peripheral/chemistry/genetics/*pathology/surgery
MH  - Oncogene Proteins, Fusion/genetics
MH  - Oxyphil Cells/chemistry/*pathology
MH  - Predictive Value of Tests
MH  - Stomach Neoplasms/chemistry/genetics/*pathology/surgery
OTO - NOTNLM
OT  - Clear cell sarcoma
OT  - EWSR1
OT  - Granular cell tumor
OT  - Malignant gastrointestinal neuroectodermal tumor
OT  - Oncocytic neoplasms
EDAT- 2016/10/25 06:00
MHDA- 2017/08/29 06:00
CRDT- 2016/06/28 06:00
PHST- 2016/03/11 00:00 [received]
PHST- 2016/04/18 00:00 [revised]
PHST- 2016/05/25 00:00 [accepted]
PHST- 2016/10/25 06:00 [pubmed]
PHST- 2017/08/29 06:00 [medline]
PHST- 2016/06/28 06:00 [entrez]
AID - S0046-8177(16)30127-7 [pii]
AID - 10.1016/j.humpath.2016.05.026 [doi]
PST - ppublish
SO  - Hum Pathol. 2016 Nov;57:13-16. doi: 10.1016/j.humpath.2016.05.026. Epub 2016 Jun 
      23.