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Chromosome Transloc...
Chromosome Translocations, Gene Fusions, and Their Molecular Consequences in Pleomorphic Salivary Gland Adenomas
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- Stenman, Göran, 1953 (author)
- Gothenburg University,Göteborgs universitet,Sahlgrenska Centrum för Cancerforskning (SCCR),Sahlgrenska Center for Cancer Research (SCCR)
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- Fehr, Andre (author)
- Gothenburg University,Göteborgs universitet,Sahlgrenska Centrum för Cancerforskning (SCCR),Sahlgrenska Center for Cancer Research (SCCR)
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Skalova, A. (author)
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Vander Poorten, V. (author)
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Hellquist, H. (author)
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Mikkelsen, L. H. (author)
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Saba, N. F. (author)
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Guntinas-Lichius, O. (author)
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Chiesa-Estomba, C. M. (author)
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- Andersson, Mattias K, 1979 (author)
- Gothenburg University,Göteborgs universitet,Sahlgrenska Centrum för Cancerforskning (SCCR),Sahlgrenska Center for Cancer Research (SCCR)
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Ferlito, A. (author)
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(creator_code:org_t)
- 2022-08-14
- 2022
- English.
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In: Biomedicines. - : MDPI AG. - 2227-9059. ; 10:8
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Abstract
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- pleomorphic adenoma
- chromosome translocation
- chromosome 8q12
- chromosome 12q13-15
- gene fusion
- PLAG1
- HMGA2
- IGF2
- diagnostic
- biomarker
- therapeutic target
- benign human neoplasm
- transcriptional activation
- cytogenetic findings
- beta-catenin
- plag1
- tumors
- rearrangements
- specificity
- expression
- amplification
- Biochemistry & Molecular Biology
- Research & Experimental Medicine
- Pharmacology & Pharmacy
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Stenman, Göran, ...
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Fehr, Andre
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Skalova, A.
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Vander Poorten, ...
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Hellquist, H.
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Mikkelsen, L. H.
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show more...
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Saba, N. F.
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Guntinas-Lichius ...
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Chiesa-Estomba, ...
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Andersson, Matti ...
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Ferlito, A.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Biomedicines
- By the university
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University of Gothenburg