Gastroblastoma Treated by Endoscopic Submucosal Excavation with a Novel PTCH1::GLI2 Fusion: A Rare Case Report and Literature Review

Gastroblastoma is an extremely rare stomach tumor that primarily presents in adolescent and early adulthood, with a biphasic cell morphology of epithelioid and spindle cells. In light of its similarity to other childhood blastomas, it has been named gastroblastoma. Few patients showed a potential of...

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Bibliographic Details
Published in:Current oncology (Toronto) 2022-11, Vol.29 (11), p.8862-8873
Main Authors: Liu, Yongru, Wu, Huanwen, Wu, Xi, Feng, Yunlu, Jiang, Qingwei, Wang, Qiang, Yang, Aiming
Format: Article
Language:English
Subjects:
Adolescent
Adult
Case Report
Child
endoscopic submucosal excavation
endoscopic treatment
Endoscopy
gastroblastoma
Humans
MALAT1-GLI1 fusion
Male
Middle Aged
Nuclear Proteins
PTCH1::GLI2 fusion
RNA, Long Noncoding - genetics
Stomach Neoplasms - surgery
stomach tumor
Treatment Outcome
Zinc Finger Protein GLI1 - genetics
Zinc Finger Protein Gli2
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Summary:Gastroblastoma is an extremely rare stomach tumor that primarily presents in adolescent and early adulthood, with a biphasic cell morphology of epithelioid and spindle cells. In light of its similarity to other childhood blastomas, it has been named gastroblastoma. Few patients showed a potential of metastasis and recurrence, however, most of the reported cases were alive, with no evidence of the disease after surgical treatment. Commonly, fusion has been considered to be the most relevant mutation. Herein, we present a case of an asymptomatic 58-year-old man who happened to find a submucosal gastric mass during a gastroscope and received endoscopic submucosal excavation (ESE). He turned out to have a gastroblastoma with a novel fusion confirmed by Sanger sequencing. The patient was discharged two days after ESE without any complication and was recurrence-free during his one-year follow-up. According to the previous literature and our own experience, in cases with characteristic histopathology and immunohistochemistry patterns, a diagnosis of gastroblastoma should be considered even without a fusion. Gastroblastoma pursues a favorable clinical outcome and endoscopic therapy could be an effective alternative treatment choice.
ISSN:1718-7729
1198-0052
1718-7729
DOI:10.3390/curroncol29110697