Recurrent Tumor Suppressor Alterations in Primary Pericardial Mesothelioma

Schaefer, Inga‐Marie; Mariño-Enríquez, Adrián; Hammer, Mark M.; Padera, Robert F.; Sholl, Lynette M.

doi:10.1016/j.modpat.2023.100237

Cited by 3 publications

(1 citation statement)

References 31 publications

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“…Pericardial mesothelioma is an exceptionally rare disease; hence, no large population genomics studies have been conducted to date. However, next generation sequencing data from studies by Kato [18], Offin [26] and Schaefer [27] are available. These studies prove that this disease is mainly characterized by mutations in NF2, CDKN2A, BAP1 and TP53.…”

Section: Pericardial Mesothelioma (Perm)mentioning

confidence: 99%

Clinical Next Generation Sequencing Application in Mesothelioma: Finding a Golden Needle in the Haystack

Cerbone,

Orecchia,

Bertino

et al. 2023

Cancers

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Mesothelioma comprises a group of rare cancers arising from the mesothelium of the pleura, peritoneum, tunica vaginalis testis and pericardium. Mesothelioma is generally associated with asbestos exposure and has a dismal prognosis, with few therapeutic options. Several next generation sequencing (NGS) experiments have been performed on mesothelioma arising at different sites. These studies highlight a genomic landscape mainly characterized by a high prevalence (>20%) of genomic aberrations leading to functional losses in oncosuppressor genes such as BAP1, CDKN2A, NF2, SETD2 and TP53. Nevertheless, to date, evidence of the effect of targeting these alterations with specific drugs is lacking. Conversely, 1–2% of mesothelioma might harbor activating mutations in oncogenes with specifically approved drugs. The goal of this review is to summarize NGS applications in mesothelioma and to provide insights into target therapy of mesothelioma guided by NGS.

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Section: Pericardial Mesothelioma (Perm)mentioning

confidence: 99%

Clinical Next Generation Sequencing Application in Mesothelioma: Finding a Golden Needle in the Haystack

Cerbone,

Orecchia,

Bertino

et al. 2023

Cancers

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Encased in Peril

Kaur,

Sabatine,

Schaefer

et al. 2023

N Engl J Med

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Molecular and Immunohistochemical Testing in Mesothelioma and Other Mesothelial Lesions

Hung,

Chirieac

2024

Archives of Pathology &Amp; Laboratory Medicine

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Context.— Molecular testing has increasingly been utilized in the evaluation of mesothelioma. Diffuse mesothelioma comprises multiple distinct genetic subgroups. While most diffuse mesotheliomas lack oncogenic kinase mutations and instead harbor alterations involving tumor suppressors and chromatin regulators, a minor subset of tumors is characterized by uncommon alterations such as germline mutations, genomic near-haploidization, ALK rearrangement, ATF1 rearrangement, or EWSR1::YY1 fusion. Objective.— To provide updates on the salient molecular features of diffuse mesothelioma, mesothelioma in situ, and other mesothelial lesions: well-differentiated papillary mesothelial tumor, adenomatoid tumor, peritoneal inclusion cyst, and others. We consider the diagnostic, prognostic, and predictive utility of molecular testing in mesothelial lesions. Data Sources.— We performed a literature review of recently described genetic features, molecular approaches, and immunohistochemical tools, including BAP1, MTAP, and merlin in mesothelioma and other mesothelial lesions. Conclusions.— Our evolving understanding of the molecular diversity of diffuse mesothelioma and other mesothelial lesions has led to considerable changes in pathology diagnostic practice, including the application of immunohistochemical markers such as BAP1, MTAP, and merlin (NF2), which are surrogates of mutation status. In young patients and/or those without significant asbestos exposure, unusual mesothelioma genetics such as germline mutations, ALK rearrangement, and ATF1 rearrangement should be considered.

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Recurrent Tumor Suppressor Alterations in Primary Pericardial Mesothelioma

Cited by 3 publications

References 31 publications

Clinical Next Generation Sequencing Application in Mesothelioma: Finding a Golden Needle in the Haystack

Clinical Next Generation Sequencing Application in Mesothelioma: Finding a Golden Needle in the Haystack

Encased in Peril

Molecular and Immunohistochemical Testing in Mesothelioma and Other Mesothelial Lesions

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