CSF1 expression in xanthogranulomatous epithelial tumor/keratin-positive giant cell-rich tumor

Dehner, Carina A.; Lo, Ying-Chun; Chopra, Shefali; Demicco, Elizabeth G.; He, Kevin; Hirbe, Angela C.; Folpe, Andrew L.; Chrisinger, John S.A.

doi:10.1016/j.humpath.2023.11.006

Cited by 4 publications

(9 citation statements)

References 20 publications

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“…In 2023, Perret et al reported that whole RNA-sequencing revealed similar levels of expression of the CSF1/CSF1R axis between KPGCTST and TSGCT [74]. Most recently, Dehner et al also identified strong expression of CSF1 mRNA and high-level CSF1 gene expression in KPGCTST/XGET [77]. These findings show that the CSF1/CSF1R pathway is involved in the pathogenesis of KPGCTST.…”

Section: Differential Diagnosismentioning

confidence: 95%

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Giant Cell Tumor of Soft Tissue: An Updated Review

Nishio,

Nakayama,

Koga

et al. 2024

JCM

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Giant cell tumor of soft tissue (GCTST) is a locally aggressive mesenchymal neoplasm of intermediate malignancy that predominantly occurs in the superficial soft tissue of the extremities. It is histologically similar to a giant cell tumor of bone (GCTB) and shows a mixture of round to oval mononuclear cells and osteoclast-like multinucleated giant cells. Currently, immunohistochemistry plays a very limited role in the diagnosis of GCTST. Primary or secondary malignant GCTST has recently been described and tumors exhibiting high-grade histological features demonstrate higher rates of distant metastasis. GCTST lacks the H3-3A gene mutations that are identified in the vast majority of GCTBs, suggesting a different pathogenesis. Surgery is the standard treatment for localized GCTST. Incomplete surgical resection is usually followed by local recurrence. Radiation therapy may be considered when the close proximity of critical structures prevents microscopically negative surgical margins. The systemic treatment options for advanced or metastatic disease are very limited. This review provides an updated overview of the clinicoradiological features, pathogenesis, histopathology, and treatment for GCTST. In addition, we will discuss the differential diagnosis of this peculiar neoplasm.

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Section: Differential Diagnosismentioning

confidence: 95%

“…Endothelial, myoid, and neurogenic markers are typically negative [71]. It is of interest that CSF1 expression, similarly to TSGCT, has also been identified in KPGCTST [74,77]. In 2023, Perret et al reported that whole RNA-sequencing revealed similar levels of expression of the CSF1/CSF1R axis between KPGCTST and TSGCT [74].…”

Section: Differential Diagnosismentioning

confidence: 99%

Giant Cell Tumor of Soft Tissue: An Updated Review

Nishio,

Nakayama,

Koga

et al. 2024

JCM

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“…KPGCT primarily occurs in younger adults, with a peak incidence age of 20-30 years, and shows a strong female predilection [1][2][3][4][5][6][7][8]. The etiology of this neoplasm in unknown.…”

Section: Clinical Characteristicsmentioning

confidence: 99%

“…Due to the rarity of the disease and a lack of knowledge regarding this condition, the clinical behavior has not been fully elucidated. To the best of our knowledge, fewer than 40 cases of KPGCT have been reported in the English language-based literature [1][2][3][4][5][6][7][8]. In two case series, no recurrences are reported to have been detected in any cases of KPGCTST [3,5].…”

Section: Clinical Characteristicsmentioning

confidence: 99%

“…The authors suggested that these two tumors might represent morphological variants of a single entity and have uncertain biological potential. Clinically, KPGCT of soft tissue (KPGCTST) frequently occurs in the superficial soft tissue of the extremities, while the axial skeleton is the most common site for KPGCT of bone (KPGCTB) [1][2][3][4][5][6][7][8]. Surgery is the treatment of choice for localized KPGCT.…”

Section: Introductionmentioning

confidence: 99%

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Keratin-Positive Giant Cell-Rich Tumor: A Review and Update

Nishio,

Nakayama,

Koga

et al. 2024

Cancers

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Keratin-positive giant cell-rich tumor (KPGCT) is an extremely rare and recently described mesenchymal neoplasm that occurs in both soft tissue and bone, frequently found in young women. It has locally recurrent potential if incompletely excised but low risk for metastasis. KPGCT is histologically similar to conventional giant cell tumors of soft tissue but shows the presence of keratin-positive mononuclear cells. Interestingly, KPGCT also shares some morphological features with xanthogranulomatous epithelial tumors. These two tumors have recently been shown to harbor an HMGA2–NCOR2 fusion, arguing in favor of a single entity. Surgery is the treatment of choice for localized KPGCT. Therapeutic options for advanced or metastatic disease are unknown. This review provides an overview of the current knowledge on the clinical presentation, pathogenesis, histopathology, and treatment of KPGCT. In addition, we will discuss the differential diagnosis of this emerging entity.

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