Pericytoma with t(7;12) and ACTB-GLI1 fusion arising in bone

Bridge, Julia A.; Sanders, Kyle; Huang, Dali; Nelson, Marilu; Neff, James R.; Muirhead, David; Walker, Craig W.; Seemayer, Thomas A.; Sümegi, János

doi:10.1016/j.humpath.2012.01.019

Cited by 44 publications

(48 citation statements)

References 13 publications

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“…Myopericytoma shows variable cellularity and a collagenous or sometimes myxoid stroma, and may also show bulging subendothelial proliferation of tumor cells within vessels walls. Consistent genetic alterations have not been identified in myopericytoma, apart from a unique variant characterized by translocation t(7; 12)(p22; q13) which results in ACTB-GLI1 fusion [30][31][32] and a report of BRAF V600E mutations in a subset of myopericytomas [33]. Similar to a prior report [34], nuclear b-catenin expression is consistently absent in myofibroma and is useful in the distinction between sinonasal HPC and myopericytoma.…”

Section: Discussionmentioning

confidence: 53%

Nuclear β-Catenin Expression is Frequent in Sinonasal Hemangiopericytoma and Its Mimics

Fletcher

2016

Head and Neck Pathol

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Sinonasal hemangiopericytoma (HPC) is a tumor showing pericytic myoid differentiation and which arises in the nasal cavity and paranasal sinuses. CTNNB1 mutations appear to be a consistent aberration in sinonasal HPC, and nuclear expression of b-catenin has been reported. Our aim was to evaluate the frequency of b-catenin expression in sinonasal HPC and its histologic mimics in the upper aerodigestive tract. Cases were retrieved from the surgical pathology and consultation files. Immunohistochemical staining for b-catenin was performed on 50 soft tissue tumors arising in the sinonasal tract or oral cavity, and nuclear staining was recorded semiquantitatively by extent and intensity. Nuclear reactivity for b-catenin was present in 19/20 cases of sinonasal HPC; 17 showed moderate-to-strong multifocal or diffuse staining, and 2 had moderate focal nuclear reactivity. All solitary fibrous tumors (SFT) (10/10) showed focal-to-multifocal nuclear staining, varying from weak to strong in intensity. Most cases of synovial sarcoma (9/10) showed nuclear b-catenin expression in the spindle cell component, ranging from focal-weak to strong-multifocal. No cases of myopericytoma (0/10) showed any nuclear b-catenin expression. bcatenin expression is prevalent in sinonasal HPC, but is also frequent in SFT and synovial sarcoma. Our findings indicate that b-catenin is not a useful diagnostic tool in the evaluation of spindle cell tumors with a prominent hemangiopericytoma-like vasculature in the sinonasal tract and oral cavity, and that definitive diagnosis relies on the use of a broader immunohistochemical panel.

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Section: Discussionmentioning

confidence: 53%

Nuclear β-Catenin Expression is Frequent in Sinonasal Hemangiopericytoma and Its Mimics

Fletcher

2016

Head and Neck Pathol

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“…G-banding analysis of short-term cultured cells from the tumor yielded the karyotype 46,XX,der(7)t(7;12)(p22;q13), der(12)t(1;12)(q12;q13) [11]/46,idem,tas(X;8)(q28;q24) [3]/46, idem,tas(8;12)(q24;q24) [2] (Figure 2). FISH analysis using the CHOP break-apart probe ( Figure 3A and B) showed that the distal part of the probe (green signal) hybridized to the der(7)t(7;12)(p22;q13), whereas the proximal part of the probe (red signal) hybridized to der(12)t(1;12)(q12;q13) ( Figure 3C).…”

Section: Resultsmentioning

confidence: 99%

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

et al. 2020

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Background/Aim: Since the first description of five pericytomas with the t(7;12)/ACTB-GLI1 fusion gene, only three new tumors were studied by both cytogenetics and molecular techniques. We report here genetic data on another case of this rare tumor. Materials and Methods: Cytogenetic, fluorescence in situ hybridization (FISH), reverse transcription polymerase chain reaction (RT-PCR), and Sanger sequencing analyses were performed. Results: The pericytoma carried two structurally rearranged chromosomes: der(7)t(7;12)(p22;q13) and der(12)t(1;12)(q12;q13). In FISH experiments with a breakapart probe for GLI1, the distal part of the probe hybridized to der(7) whereas the proximal part to der(12). RT-PCR and Sanger sequencing detected an ACTB-GLI1 fragment in which exon 2 of ACTB was fused to exon 6 of GLI1. Conclusion: The ACTB-GLI1 fusion gene was mapped at der(7)t(7;12)(p22;q13) and coded for a putative ACTB-GLI1 protein in which the first 41 amino acid (aa) of ACTB replaced the first 177 aa of GLI1.

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“…This translocation resulted in an Actin beta 1 ( ACTB1 ) –GLI-1 fusion. Subsequently, more such cases were described and initially these unique tumours were construed as benign 7 8. However, the study by Antonescu and colleagues showed that these tumours indeed do have malignant potential 9.…”

Section: Introductionmentioning

confidence: 99%

Gene of the month: GLI-1

Chetty

2020

J Clin Pathol

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The Glioma-associated homologue-1 (GLI-1) gene was first discovered to be amplified in glioblastoma multiforme. It encodes for a zinc-finger transcription factor in the Kruppel family of proteins and is important in the sonic hedgehog signalling pathway. GLI-1 also plays a role in several other pathways and is important for proliferation, migration, invasion, growth and angioinvasion, and cancer stem cell self-renewal in a variety of malignancies. GLI-1 is amplified in several malignancies, including an epithelioid, pericytomatous soft tissue neoplasm that can exhibit malignant behaviour. More recently, GLI-1 fusions with other partner genes have been found in three rare tumours: a pericytomatous tumour with a t(7;12) translocation, where it partners with Actin beta 1, and gastroblastoma and plexiform fibromyxoma, where the partner gene is metastasis-associated lung adenocarcinoma transcript 1, respectively.

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Pericytoma with t(7;12) and ACTB-GLI1 fusion arising in bone

Cited by 44 publications

References 13 publications

Nuclear β-Catenin Expression is Frequent in Sinonasal Hemangiopericytoma and Its Mimics

Nuclear β-Catenin Expression is Frequent in Sinonasal Hemangiopericytoma and Its Mimics

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

Gene of the month: GLI-1

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