Comparison of gene fusion detection methods in salivary gland tumors

Sun, Lulu; Petrone, Jessica; McNulty, Samantha N.; Evenson, Michael; Zhu, Xiaopei; Robinson, Joshua A.; Chernock, Rebecca D.; Duncavage, Eric J.; Pfeifer, John D.

doi:10.1016/j.humpath.2022.02.002

Cited by 6 publications

(11 citation statements)

References 30 publications

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“…They include immunocytochemistry (ICC), fluorescence in situ hybridization (FISH), reverse transcriptase PCR (RT-PCR) and, more recently, next-generation sequencing (NGS) technologies and FAST-FNA. 38,104 Briefly, FISH involves the hybridization of fluorescent DNA probes to detect the presence of specific DNA sequences in chromosomes within the nucleus. This assay assesses gene translocations by using two-colour break-apart or double fusion probe sets.…”

Section: Molecul Ar Te S Ts In the Fr Ame Work Of The Mil An Sys Temmentioning

confidence: 99%

“…However, one disadvantage is that FISH diagnostic evaluation is still affected by intra-and inter-observer variability, as well as tissue artefacts, in particular when applied on cell-block sections. 48,[104][105][106] RT-PCR is widely used to detect fusion transcripts. It uses a reverse transcriptase enzyme to convert RNA into matching cDNA, which is then amplified by PCR with a specific fluorescence probe.…”

Section: Molecul Ar Te S Ts In the Fr Ame Work Of The Mil An Sys Temmentioning

confidence: 99%

“…This is an important limitation if one considers the diagnostic, prognostic and therapeutic implications of fusion transcripts in cancer. 104 Moreover, besides being able to differentiate benign salivary gland neoplasms from malignant tumours, FAST-FNA panels can provide histological subtyping in a cost-effective manner. 107 As of today, there is no general recommendation on which technology is best to obtain optimal results.…”

Section: Molecul Ar Te S Ts In the Fr Ame Work Of The Mil An Sys Temmentioning

confidence: 99%

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Molecular testing in salivary gland cytopathology: A practical overview in conjunction with the Milan system

Carillo,

De Luca,

Pisapia

et al. 2024

Cytopathology

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Recently, significant advances in the molecular characterization of salivary gland neoplasms have facilitated the classification and diagnosis of specific diagnostic entities. In the highly challenging diagnostic scenario of salivary malignancies, molecular testing is increasingly being adopted in routine practice to refine the cytological diagnosis of salivary lesions. Here, we reviewed the most recent evidence in the field of salivary glands molecular cytopathology.

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Section: Molecul Ar Te S Ts In the Fr Ame Work Of The Mil An Sys Temmentioning

confidence: 99%

Section: Molecul Ar Te S Ts In the Fr Ame Work Of The Mil An Sys Temmentioning

confidence: 99%

Section: Molecul Ar Te S Ts In the Fr Ame Work Of The Mil An Sys Temmentioning

confidence: 99%

See 1 more Smart Citation

Molecular testing in salivary gland cytopathology: A practical overview in conjunction with the Milan system

Carillo,

De Luca,

Pisapia

et al. 2024

Cytopathology

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“…In addition to NFIB and FHIT , there are at least five additional known fusion partner genes to HMGA2 in PA, including FTO , HELB , TMTC2 , RPSAP52 , and WIF1 [ 71 , 72 , 73 , 74 ] ( Figure 4 B and Supplementary Table S1 ). Available data indicate that the latter, together with NFIB , are the two most common fusion partners [ 37 , 42 , 72 , 74 ].…”

Section: The Gene Fusion Landscape Of Pamentioning

confidence: 99%

“…Table S1: Overview of all PLAG1 - and HMGA2 -fusions so far described in pleomorphic salivary gland adenomas in the literature. References [ 11 , 12 , 13 , 17 , 19 , 37 , 38 , 39 , 42 , 60 , 61 , 62 , 71 , 72 , 73 , 74 , 85 , 89 , 90 , 91 ] are cited in the supplementary materials.…”

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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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Insights into the molecular alterations of PLAG1 and HMGA2 in the malignant phenotype acquisition in pleomorphic adenoma

de Lima-Souza,

de Souza Vieira,

de Carvalho Kimura

et al. 2024

Critical Reviews in Oncology/Hematology

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Comparison of gene fusion detection methods in salivary gland tumors

Cited by 6 publications

References 30 publications

Molecular testing in salivary gland cytopathology: A practical overview in conjunction with the Milan system

Molecular testing in salivary gland cytopathology: A practical overview in conjunction with the Milan system

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

Insights into the molecular alterations of PLAG1 and HMGA2 in the malignant phenotype acquisition in pleomorphic adenoma

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