Recurrent rearrangements of the <i><scp>PLAG</scp>1</i> and <i><scp>HMGA</scp>2</i> genes in lacrimal gland pleomorphic adenoma and carcinoma ex pleomorphic adenoma

Andreasen, Simon; Holstein, Sarah Linéa von; Homøe, Preben; Heegaard, Steffen

doi:10.1111/aos.13667

Cited by 36 publications

(23 citation statements)

References 34 publications

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“…The third case showed a very uncommon morphology, which could lead to a misinterpretation of pleomorphic adenoma. Parallel sequencing of the fusion genes with the described panel could thereby help to further corroborate a carcinoma ex pleomorphic adenoma, which typically harbors PLAG1 or HMGA2 fusions [ 69 , 70 ]. MYBL1-NFIB rearrangements can be detected in up to 24% of adenoid-cystic carcinoma and are highly specific for this tumor entity [ 15 , 16 ].…”

Section: Discussionmentioning

confidence: 99%

SalvGlandDx – a comprehensive salivary gland neoplasm specific next generation sequencing panel to facilitate diagnosis and identify therapeutic targets

et al. 2021

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Highlights SalvGlandDx includes 27 genes known to be involved in salivary gland neoplasms Can be applied to FFPE histological and cytological (cell block) specimen Solely RNA extraction is needed Gene fusions, hotspot mutations and gene expression levels can be detected Guides diagnosis in uncertain cases and can detect therapeutically relevant fusions

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Section: Discussionmentioning

confidence: 99%

SalvGlandDx – a comprehensive salivary gland neoplasm specific next generation sequencing panel to facilitate diagnosis and identify therapeutic targets

et al. 2021

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“…Both fusions reported in uterine myxoid LMS involved exon 2 or exon 3 of PLAG1 and the partner gene 26 . This rare uterine LMS variant now joins a wide variety of PLAG1 fusion‐positive lesions that often exhibit myxoid and/or chondroid morphology, including pleomorphic adenoma, 27‐35 carcinoma ex‐pleomorphic adenoma, 31,36‐39 cutaneous and soft tissue myoepithelial tumors, 40‐44 as well as lipoblastoma 45‐55 …”

Section: Myxoid Leiomyosarcomamentioning

confidence: 99%

Recent advances in smooth muscle tumors with PGR and PLAG1 gene fusions and myofibroblastic uterine neoplasms

Chiang

2020

Genes Chromosomes & Cancer

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Uterine epithelioid and myxoid leiomyosarcomas and inflammatory myofibroblastic tumors are rare mesenchymal neoplasms. Next‐generation sequencing recently detected novel PGR fusions in uterine epithelioid leiomyosarcomas that demonstrate characteristic rhabdoid and spindled morphology. PLAG1 gene fusions have also been identified in a subset of myxoid leiomyosarcomas and are associated with PLAG1 overexpression. ALK rearrangements underpin the vast majority of uterine inflammatory myofibroblastic tumors, which demonstrate morphologic, and immunohistochemical features similar to those of inflammatory myofibroblastic tumors elsewhere. This review summarizes the morphologic, immunophenotypic, and molecular genetic features of PGR fusion‐positive epithelioid leiomyosarcoma, PLAG1 fusion‐positive myxoid leiomyosarcoma, and inflammatory myofibroblastic tumors of the uterus.

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“…Through recent years, a network of fusion genes, hotspot mutations, and copy‐number alterations has been shown to underpin a large number of different tumor types, most of which have subsequently been identified in their histological counterparts in the breast and lacrimal gland (Table ; ). Most are known from cancers in other sites, but a few are found exclusively in specific types of salivary gland carcinomas.…”

Section: Tumors Of the Salivary Glandmentioning

confidence: 99%

“…Through recent years, a network of fusion genes, hotspot mutations, and copy-number alterations has been shown to underpin a large number of different tumor types, most of which have subsequently been identified in their histological counterparts in the breast and lacrimal gland ( Table 1; 8,9,[30][31][32][33][34].…”

Section: Molecular Characteristics and Implications For Targeted Therapymentioning

confidence: 99%

An update on head and neck cancer: new entities and their histopathology, molecular background, treatment, and outcome

Andreasen

Kiss

Mikkelsen

et al. 2019

APMIS

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The head and neck region harbor numerous specialized tissues of all lineages giving rise to a plethora of different malignancies. In recent years, new types and subtypes of cancer has been described here due to the recognition of their histological and molecular characteristics. Some have been formally accepted in the most recent classifications from the World Health Organization (WHO) and American Joint Committee on Cancer (AJCC) as distinct diseases due to characteristics in clinical presentation, outcome, and treatment. In particular, this applies to malignancies of the salivary gland, sinonasal tract, and oropharynx. In this overview, we present the most recent developments in the classification, histopathological characteristics, and molecular features of head and neck cancer. The clinical and radiological characteristics, outcome, and treatment options including perspectives for targeted therapies, are discussed.

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Recurrent rearrangements of the PLAG1 and HMGA2 genes in lacrimal gland pleomorphic adenoma and carcinoma ex pleomorphic adenoma

Abstract: Rearrangement of PLAG1 and HMGA2 and expression of the corresponding proteins are frequent and specific findings in lacrimal gland PA and ca-ex-PA. The mechanism for PLAG1 overexpression in FISH-negative PAs is yet to be clarified.

Cited by 36 publications

References 34 publications

SalvGlandDx – a comprehensive salivary gland neoplasm specific next generation sequencing panel to facilitate diagnosis and identify therapeutic targets

SalvGlandDx – a comprehensive salivary gland neoplasm specific next generation sequencing panel to facilitate diagnosis and identify therapeutic targets

Recent advances in smooth muscle tumors with PGR and PLAG1 gene fusions and myofibroblastic uterine neoplasms

An update on head and neck cancer: new entities and their histopathology, molecular background, treatment, and outcome

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