Targeted <scp>RNA</scp> sequencing in the routine clinical detection of fusion genes in salivary gland tumors

Bubola, Justin; MacMillan, Christina; Demicco, Elizabeth G.; Chami, Rose; Chung, Catherine T.; Leong, Iona; Marrano, Paula; Önkal, Zeynep; Swanson, David; Veremis, Brandon; Weinreb, Ilan; Zhang, Lei; Antonescu, Cristina R.; Dickson, Brendan C.

doi:10.1002/gcc.22979

Cited by 14 publications

(27 citation statements)

References 79 publications

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“…102 Known partners for PLAG1 gene included NFIB, FGRF1, and FBXO32, and for HMGA2 gene included NFIB, were confirmed in four cases of CXPA, respectively. 102 Novel fusions MEG3::PLAG1 and HMGA2::CNOT2 were identified in two cases. 102 The most common fusion transcripts in myoepithelial CXPAs included FGFR1::PLAG1 and TGFBR3::PLAG1, 103 and LIFR:: PLAG1, CTNNB1::PLAG1, FGFR1::PLAG1, and CHCHD7::PLAG1, 104 respectively.…”

Section: Carcinoma Ex Pleomorphic Adenomamentioning

confidence: 85%

“…In a recent study of CXPAs, a prevalence of 57% (4/7) and 29% (2/7) of PLAG1 and HMGA2 rearrangements was reported, respectively 102 . Known partners for PLAG1 gene included NFIB , FGRF1 , and FBXO32 , and for HMGA2 gene included NFIB , were confirmed in four cases of CXPA, respectively 102 . Novel fusions MEG3::PLAG1 and HMGA2::CNOT2 were identified in two cases 102 .…”

Section: Fusion‐positive Salivary Cancersmentioning

confidence: 90%

“…102 Novel fusions MEG3::PLAG1 and HMGA2::CNOT2 were identified in two cases. 102 The most common fusion transcripts in myoepithelial CXPAs included FGFR1::PLAG1 and TGFBR3::PLAG1, 103 and LIFR:: PLAG1, CTNNB1::PLAG1, FGFR1::PLAG1, and CHCHD7::PLAG1, 104 respectively.…”

Section: Carcinoma Ex Pleomorphic Adenomamentioning

confidence: 96%

“…About two thirds of CXPA display PLAG1 or HMGA2 rearrangements and/or amplification, and they may serve as a marker of a pre‐existing PA 99,101 . In a recent study of CXPAs, a prevalence of 57% (4/7) and 29% (2/7) of PLAG1 and HMGA2 rearrangements was reported, respectively 102 . Known partners for PLAG1 gene included NFIB , FGRF1 , and FBXO32 , and for HMGA2 gene included NFIB , were confirmed in four cases of CXPA, respectively 102 .…”

Section: Fusion‐positive Salivary Cancersmentioning

confidence: 99%

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Fusion‐positive salivary gland carcinomas

Skálová

Hyrcza

Vaněček

et al. 2022

Genes Chromosomes & Cancer

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Salivary gland tumors are a rare, heterogeneous group of neoplasms that pose significant diagnostic challenges for the histopathologist. Histopathological diagnosis relies primarily on morphological assessment, with ancillary special stains and immunohistochemistry. In recent years, new defining genomic alterations have been characterized in these tumors. In particular, they include gene fusions which have shown to be tightly tumor‐type specific, and thus valuable for use in diagnostically challenging cases. These discoveries also help in refining tumor classification. Furthermore, such genetic alterations may have prognostic as well as potentially therapeutic implications in the era of personalized medicine. This review aims at providing a summary of the most recent updates in this field.

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Section: Carcinoma Ex Pleomorphic Adenomamentioning

confidence: 85%

Section: Fusion‐positive Salivary Cancersmentioning

confidence: 90%

Section: Carcinoma Ex Pleomorphic Adenomamentioning

confidence: 96%

Section: Fusion‐positive Salivary Cancersmentioning

confidence: 99%

See 2 more Smart Citations

Fusion‐positive salivary gland carcinomas

Skálová

Hyrcza

Vaněček

et al. 2022

Genes Chromosomes & Cancer

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“…To date, we and others have identified a network of PLAG1 fusions in PA involving at least 11 additional fusion partner genes, including CHCHD7 , FGFR1 , TCEA1 , NCALD , FBXO32 , NTF3 , ACTA2 , DSTN , C1orf116 , GEM , and BOC [ 38 , 39 , 60 , 61 , 62 ] ( Figure 4 A and Supplementary Table S1 ).…”

Section: The Gene Fusion Landscape Of Pamentioning

confidence: 99%

Chromosome Translocations, Gene Fusions, and Their Molecular Consequences in Pleomorphic Salivary Gland Adenomas

et al. 2022

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Salivary gland tumors are a heterogeneous group of tumors originating from the major and minor salivary glands. The pleomorphic adenoma (PA), which is the most common subtype, is a benign lesion showing a remarkable morphologic diversity and that, upon recurrence or malignant transformation, can cause significant clinical problems. Cytogenetic studies of >500 PAs have revealed a complex and recurrent pattern of chromosome rearrangements. In this review, we discuss the specificity and frequency of these rearrangements and their molecular/clinical consequences. The genomic hallmark of PA is translocations with breakpoints in 8q12 and 12q13-15 resulting in gene fusions involving the transcription factor genes PLAG1 and HMGA2. Until recently, the association between these two oncogenic drivers was obscure. Studies of the Silver–Russel syndrome, a growth retardation condition infrequently caused by mutations in IGF2/HMGA2/PLAG1, have provided new clues to the understanding of the molecular pathogenesis of PA. These studies have demonstrated that HMGA2 is an upstream regulator of PLAG1 and that HMGA2 regulates the expression of IGF2 via PLAG1. This provides a novel explanation for the 8q12/12q13-15 aberrations in PA and identifies IGF2 as a major oncogenic driver and therapeutic target in PA. These studies have important diagnostic and therapeutic implications for patients with PA.

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Is molecular testing of salivary gland FNA specimens ready for prime time?

Pusztaszeri

2024

Cancer Cytopathology

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With improvements in the molecular characterization of salivary gland neoplasms, fine‐needle aspiration specimens, including smears and cell blocks, are amenable to molecular testing for defining alterations, providing a specific diagnosis in many cases, and guiding management in a preoperative setting. Molecular testing can be particularly beneficial and complementary when used within the framework of the Milan system, as the results can further refine the risk of malignancy.

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Targeted RNA sequencing in the routine clinical detection of fusion genes in salivary gland tumors

Cited by 14 publications

References 79 publications

Fusion‐positive salivary gland carcinomas

Fusion‐positive salivary gland carcinomas

Chromosome Translocations, Gene Fusions, and Their Molecular Consequences in Pleomorphic Salivary Gland Adenomas

Is molecular testing of salivary gland FNA specimens ready for prime time?

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