PMID- 37345250
OWN - NLM
STAT- Publisher
LR  - 20230622
IS  - 1744-5108 (Electronic)
IS  - 0167-6830 (Linking)
DP  - 2023 Jun 21
TI  - Unique case of a GLI1 amplified biphasic mesenchymal tumor of the orbit.
PG  - 1-5
LID - 10.1080/01676830.2023.2225196 [doi]
AB  - GLI1-altered mesenchymal tumors are an emerging entity in soft tissue pathology. 
      In the head and neck region, they are most commonly in the tongue. Limited 
      published data indicate a propensity for local recurrence, regional spread, and 
      distant metastasis in both GLI1-rearranged and GLI1-amplified tumors. The purpose 
      of this report is to present the rare case of a GLI1-amplified spindle cell tumor 
      of the orbit and a focused review of the literature. A 54-year-old woman 
      presented with proptosis, eye pain, and ocular motility restriction in the left 
      eye. Imaging demonstrated a tumor occupying the superomedial intraconal orbit 
      that was distinct from the extraocular muscles, optic nerve, and globe. The tumor 
      was totally resected with a combined open transorbital and endoscopic, endonasal 
      approach. Pathological analysis demonstrated a spindled and epithelioid 
      mesenchymal tumor with diffuse nuclear GLI1 expression. PCR-based, 
      next*-generation sarcoma fusion panel was negative for GLI1 fusions, including 
      GLI1::ACTB fusions; however, DDIT3 breaks apart fluorescence in situ 
      hybridization (FISH), which can be used as a surrogate for GLI1 alterations due 
      to proximity to 12q13.3, showing amplification. Post-operatively, the patient had 
      recovered visual acuity. She received adjuvant radiation therapy (60 Gy in 30 
      fractions). Surveillance for recurrence, regional spread, and distant metastasis 
      has been negative at a 6-month follow-up. Ultimately, we report the first case of 
      a GLI1-amplified mesenchymal neoplasm of the intraconal orbit managed with gross 
      total resection via a combined approach followed by adjuvant radiation therapy.
FAU - Godse, N R
AU  - Godse NR
AD  - Section of Rhinology and Skull Base Surgery, Head and Neck Institute, Cleveland 
      Clinic Foundation, Cleveland, Ohio, USA.
FAU - Alsulaimani, S
AU  - Alsulaimani S
AD  - Rose Ella Burkhardt Brain Tumor and Neuro-Oncology Center, Neurological 
      Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
FAU - Singh, A D
AU  - Singh AD
AD  - Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
FAU - Fletcher, C D
AU  - Fletcher CD
AD  - Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, 
      USA.
FAU - Astbury, C
AU  - Astbury C
AD  - Department of Pathology, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
FAU - Fritchie, K
AU  - Fritchie K
AD  - Department of Pathology, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
FAU - Recinos, P F
AU  - Recinos PF
AD  - Section of Rhinology and Skull Base Surgery, Head and Neck Institute, Cleveland 
      Clinic Foundation, Cleveland, Ohio, USA.
AD  - Rose Ella Burkhardt Brain Tumor and Neuro-Oncology Center, Neurological 
      Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
FAU - Sindwani, R
AU  - Sindwani R
AD  - Section of Rhinology and Skull Base Surgery, Head and Neck Institute, Cleveland 
      Clinic Foundation, Cleveland, Ohio, USA.
AD  - Rose Ella Burkhardt Brain Tumor and Neuro-Oncology Center, Neurological 
      Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
LA  - eng
PT  - Journal Article
DEP - 20230621
PL  - England
TA  - Orbit
JT  - Orbit (Amsterdam, Netherlands)
JID - 8301221
SB  - IM
OTO - NOTNLM
OT  - GLI1 amplified tumor
OT  - endoscopic endonasal surgery
OT  - multiport skull base surgery
OT  - orbital tumor
EDAT- 2023/06/22 06:42
MHDA- 2023/06/22 06:42
CRDT- 2023/06/22 02:05
PHST- 2023/06/22 06:42 [medline]
PHST- 2023/06/22 06:42 [pubmed]
PHST- 2023/06/22 02:05 [entrez]
AID - 10.1080/01676830.2023.2225196 [doi]
PST - aheadofprint
SO  - Orbit. 2023 Jun 21:1-5. doi: 10.1080/01676830.2023.2225196.