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23 May 2024 : Case report  China (mainland)

Duodenal Soft Tissue Sarcoma with GLI1 Gene Rearrangement: A Case Report and Literature Review

Rare disease

Jinghe Li ORCID logo1ABCDEF, Ling Zuo1BCF, Li Tang1BCF, Xiaochu Yan2ACDF, Shengkai Chen1ABCDG*

DOI: 10.12659/AJCR.943271

Am J Case Rep 2024; 25:e943271

Table 3. Publication year and main clinical features of previously published cases.

StudyLocationsType of GLI1 gene rearrangementTreatmentPostoperative adjuvant therapy
Antonescu CR et al 2018 []14 6 Cases: Thigh, foot, retroperitoneum, chest wall, neck, boneFusion: ACTB-GLI1, MALAT1-GLI, PTCH1-GLI1OperationObservation: 1case AWD at 20 months; 1 case AWD at 80 months
Prall OWJ et al 2020 []3 JejunumFusion: MALAT1-GLI1OperationImmunotherapy: 26-year survival History
Bridge JA et al 2012 []4 BoneFusion: ACTB-GLI1OperationNo follow-up data
Lopez-Nunez O et al 2020 []16 ThighFusion: APOD-GLI1OperationNo follow-up data
Agaram NP et al 2019 []5 10 Cases: Thigh, shoulder, elbow, forearm, finger, back, neck, tongue, and lungAmplification: Co-amplification of genes CDK4 and MDM2OperationObservation: 1 case AWD at 26 months; 1 case alive NED at 16 months
Jessurun J et al 2022 []2 Case 1: Terminal ileumCase 2: DuodenumCase 3: JejunumCase 1: DDIT3-GLI1Case 2: AARS- GLI1Case 3: ACTB-GLI1OperationObservation: Alive NED after surgical resection (3y, 12y, 1y)
NED – no evidence of disease. AWD – alive with disease. # There is no follow-up data for other cases.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923