An Unbalanced Chromosome Translocation Between 7p22 and 12q13 Leads to <i>ACTB-GLI1</i> Fusion in Pericytoma

Panagopoulos, Ioannis; Gorunova, Ludmila; Rise, Tor Vikan; Andersen, Kristin; Micci, Francesca; Heim, Sverre

doi:10.21873/anticanres.14065

Cited by 12 publications

(5 citation statements)

References 32 publications

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“…In addition, all 3 cases described herein showed GLI1 fusions with partners other than the MALAT1 gene: DDIT3::GLI1 , GLI1::AARS , and GLI1::ACTB fusions were detected in 1 case each of this series. Of note, our case with a GLI1::ACTB fusion lacked an epithelioid component but contained sheets of plump spindled cells associated with a rich vascular network, thereby resembling the morphologic and molecular features described in pericytoma with t[7;12] 5,19. A similar tumor with the same gene fusion has been reported in the stomach of a 9-year-old girl,7 suggesting that the spectrum of features associated with GLI1 fusion-associated tumors is broader than has been previously described in gastroblastomas.…”

Section: Discussionsupporting

confidence: 71%

GLI1-Rearranged Enteric Tumor

Jessurun¹,

Orr²,

McNulty

et al. 2022

American Journal of Surgical Pathology

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GLI1 encodes a transcription factor that targets cell cycle regulators affecting stem cell proliferation. GLI1 gene fusions were initially described in pericytomas with a t[7;12] translocation and more recently in gastric plexiform fibromyxomas and gastroblastomas. This study describes the clinicopathologic, immunohistochemical, and molecular features of three intestinal-based neoplasms harboring GLI1 gene fusions. We studied three unique mesenchymal small bowel tumors. Paraffin embedded tumor tissues from these cases and 62 additional tumor samples that included a plexiform fibromyxoma were sequenced using a targeted RNAseq method to detect fusion events. The study patients included two women and one man who were 52, 80, and 22 years of age at the time of diagnosis. The tumors involved the submucosa and muscularis propria of the duodenum, jejunum, and ileum. All 3 tumors contained a proliferation of monotonous oval or spindle cells with scattered, somewhat dilated vessels. Two cases showed epithelioid structures such as glands, tubules, or nests. Immunohistochemical analysis revealed cytokeratin expression in the epithelioid components of both tumors displaying these features, and variable numbers of mesenchymal cells. Diffuse CD56 positivity was seen in the mesenchymal component of 2 tumors and desmin and smooth muscle actin staining in the other tumor. Immunostains for S-100 protein, DOG-1, and CD117 were negative in all cases. GLI1 fusions with different partner genes were detected in all tumors, and in the plexiform fibromyxoma, used as a control. Validation by fluorescence in situ hybridization was performed. None of the tumors have recurred or metastasize after surgery. We describe novel GLI1 fusions in 3 mesenchymal neoplasms of the small intestine, including 2 with biphenotypic features. Thus far, all cases have pursued indolent clinical courses. We propose the term “GLI1-rearranged enteric tumor” to encompass this group of unique neoplasms of the small intestine that harbor GLI1 gene fusions and expand the spectrum of gastrointestinal neoplasms with these alterations.

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Section: Discussionsupporting

confidence: 71%

GLI1-Rearranged Enteric Tumor

Jessurun¹,

Orr²,

McNulty

et al. 2022

American Journal of Surgical Pathology

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“…Immunohistochemistry produces inconsistent results, with most cases demonstrating variable positivity for CD56 and S100. Focal or patchy staining with SMA, AE1/AE3, CD10, synaptophysin, EMA, and p63 has also been reported 5,6,13 …”

Section: Discussionmentioning

confidence: 92%

“…Focal or patchy staining with SMA, AE1/AE3, CD10, synaptophysin, EMA, and p63 has also been reported. 5,6,13 (A) (B)…”

Section: Discussionmentioning

confidence: 99%

Fine needle aspiration biopsy of epithelioid‐mesenchymal neoplasm with PTCH1‐GLI1 fusion: A case report

Shahabi

Israel

Sullivan

et al. 2022

Diagnostic Cytopathology

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Mesenchymal tumors harboring GLI1 gene fusions are a rare new entity that typically occur in the head and neck region of young to middle aged adults, with a particular predilection for the tongue. We report herein a case of epithelioid mesenchymal tumor with PTCH1‐GLI1 gene fusion of the right submental region in an 82‐year‐old male never smoker. Ultrasound‐guided fine needle aspiration (FNA) with concomitant core needle biopsy was performed. Cytology smears revealed a hypercellular, monotonous aspirate comprised of epithelioid to plasmacytoid cells with round regular nuclei and moderate amounts of cytoplasm. There were admixed granulomata. The patient underwent surgical resection with limited neck dissection and subsequent pathologic examination with performed next generation sequencing confirmed the presence of epithelioid mesenchymal tumor with PTCH1‐GLI1 gene fusion. To our knowledge, this is the first reported example of a mesenchymal tumor harboring GLI1 gene fusion initially evaluated by FNA.

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“…GLI1-altered mesenchymal tumors is rare with 61 cases have been reported in the English literature 1–21 (Table 1). They can occur in both sexes, with a slight predilection for females (29 males and 32 females).…”

Section: Discussionmentioning

confidence: 99%

GLI1-altered Mesenchymal Tumor Involving the Duodenum: Case Report and Literature Review

et al. 2023

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GLI1-altered mesenchymal tumor is an emerging entity with distinctive clinicopathologic features. It shows a distinctive monomorphic round to epithelioid morphology, nested to trabecular pattern of growth, and S100+/SOX10-/SMA-immunophenotype. We report an example of this entity arising in the duodenum. A 31-year-old man presented with anemia for 1 year, a mass in the duodenal bulb was found for 9 days. Histopathologic examination revealed the tumor with distinct multilobulated architecture, a monomorphic appearance of round to epithelioid cells arranged in papillary structures, nests, cords, solid, reticular patterns, and hyalinized stroma surrounding a rich capillary network. The neoplastic cells had amphophilic to light eosinophilic or clear cytoplasm, uniform round nuclei with fine chromatin and inconspicuous nucleoli. Immunohistochemical analysis revealed strong positivity for vimentin, S100, CD56, CyclinD1, and negativity for SOX10, SMA, melan-A, HMB-45, synaptophysin, and a variety of other markers. Based on the morphology and immunophenotype, molecular studies were performed, which revealed the presence of an ACTB:: GLI1 fusion transcript, confirming the diagnosis of GLI1-altered mesenchymal tumor.

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An Unbalanced Chromosome Translocation Between 7p22 and 12q13 Leads to ACTB-GLI1 Fusion in Pericytoma

Cited by 12 publications

References 32 publications

GLI1-Rearranged Enteric Tumor

GLI1-Rearranged Enteric Tumor

Fine needle aspiration biopsy of epithelioid‐mesenchymal neoplasm with PTCH1‐GLI1 fusion: A case report

GLI1-altered Mesenchymal Tumor Involving the Duodenum: Case Report and Literature Review

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