NGS Analysis Confirms Common TP53 and RB1 Mutations, and Suggests MYC Amplification in Ocular Adnexal Sebaceous Carcinomas

Peterson, Curt M.; Moore, Richard O.; Hicks, Jessica L.; Morsberger, Laura; Marzo, Angelo M. De; Zou, Ying; Eberhart, Charles G.; Campbell, Ashley A.

doi:10.3390/ijms22168454

Cited by 11 publications

(7 citation statements)

References 68 publications

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“…Molecular drivers involved in PSC oncogenesis remain poorly investigated. Recently, alterations in tumor protein p53 ( TP53 ) and retinoblastoma protein 1 ( RB1 ) have been reported as the most common alterations, and it has been suggested that MYC may contribute to the oncogenesis of these tumors 18 . In addition, high‐risk HPV infection has been demonstrated in a subset of cases.…”

Section: Resultsmentioning

confidence: 99%

Periocular sebaceous carcinoma: updates in the diagnosis, treatment, staging, and management

Dini,

Susini,

Nisi

et al. 2024

Int J Dermatology

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Periocular sebaceous carcinoma (PSC) is a rare, aggressive, and potentially metastatic adnexal malignancy. Due to the ability of PSC to resemble several benign and malignant conditions, diagnosis is often delayed or mistaken. In addition, even with a known diagnosis, choosing the right treatment is still an open debate. For this reason, we decided to review the most up‐to‐date literature on PSC and propose a dedicated procedural protocol to help clinicians when dealing with PSC. A PubMed search was carried out using the terms “Sebaceous Carcinoma”, “Adnexal Periocular Cancer”, “Sebaceous Carcinoma AND eyelid”, “Periocular Sebaceous Carcinoma”, and “Ocular Adnexa”. Pertinent studies published in English from 1997 up to December 2022 were compared to the selection criteria and if suitable, included in this review. Through the initial search, 84 articles were selected. Of these, 36 were included in the final study. Several papers explored different diagnostic and therapeutic strategies regarding PSC diagnosis and management. In light of the current literature review and the multidisciplinary experience of three clinical centers, a dedicated procedural protocol is proposed. PSC diagnosis may be achieved through accurate clinical evaluation, but it requires histopathologic confirmation, which can be challenging. Dermoscopy, in vivo reflectance confocal microscopy, and optical coherence tomography may facilitate PSC clinical examination, while immunohistochemistry stains may support histological diagnosis. Appropriate disease staging is necessary before choosing the treatment, as local disease requires radically different treatment compared to advanced disease. In addition, recent innovations in nonsurgical treatments, including radio‐chemotherapy, immunotherapy, and targeted therapy, may be a viable option in the most challenging cases.

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Section: Resultsmentioning

confidence: 99%

Periocular sebaceous carcinoma: updates in the diagnosis, treatment, staging, and management

Dini,

Susini,

Nisi

et al. 2024

Int J Dermatology

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“…5a-c) and phakomatous choristoma (shown in Fig. 5d-f), are also illuminated in this chapter [31][32][33][34][35][36]. The material is coordinated with the 5th edition WHO Classification of the Tumours of the Skin, particularly with regard to cutaneous melanocytic tumors.…”

Section: Tumors Of the Eyelid (Table 6)mentioning

confidence: 98%

The 5th Edition of the World Health Organization Classification of Tumours of the Eye and Orbit

Milman¹,

Grossniklaus²,

Goldman-Levy³

et al. 2023

Ocul Oncol Pathol

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The 5th edition of the World Health Organization (WHO) Classification of Tumours of the Eye and Orbit is the latest step in standardizing the diagnostic practice worldwide. Building upon the 4th edition, published in 2018, the 5th edition introduces new chapters on the eyelid and orbital tumors, and consolidates sections on hematolymphoid tumors, soft tissue and bone tumors, metastases and genetic tumor predisposition syndromes into dedicated chapters. Written in the format of the other 5th edition volumes, a systematic approach is taken to describe the defining characteristics of each tumor type and its staging, with the addition of macroscopic appearance, cytology, diagnostic molecular pathology, and essential and desirable diagnostic criteria. This volume highlights recent advances in the etiology, pathogenesis, and diagnosis of tumors of the eye and ocular adnexa. Radiologic and ophthalmic features are also emphasized. Moreover, the 5th edition includes updates on the classification scheme for certain tumors, such as vascular anomalies, and introduces tumors that have been recently identified in the eye and ocular adnexa. This editorial summarizes the major general changes in the 5th edition of the WHO classification of Tumours of the Eye and Orbit, and the specific updates in each taxonomic category, with an emphasis on advances in understanding tumor pathogenesis, diagnostic and prognostic criteria, and novel immunohistochemical and molecular markers.

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“…The protooncogenic role of MYC in physiologic epithelial differentiation and pathologic development of carcinomas has been well-documented, and copy number gain of the c-MYC locus has been recently described in sebaceous carcinomas of the ocular adnexa. 5,15 While, to the authors’ knowledge, there are no reports of MYC expression in canine sebaceous or MGs, upregulation of MYC has been reported in canine prostatic and mammary neoplasms. 7,8…”

mentioning

confidence: 96%

“…14,15 Sebaceous adenomas are more common than either sebaceomas or sebaceous epitheliomas and can be associated with syndromic microsatellite instability or mutations in genes encoding DNA mismatch repair proteins in affected Muir Torre patients. [14][15][16] Immunohistochemistry is often used to differentiate sebaceous carcinomas from benign lesions of the eyelid and other epithelial malignancies including basal and squamous cell carcinomas. 1,16 Here, we describe the features of the rare canine MG carcinoma and compare these features to the adenoma, which occurs more commonly in both man and dog.…”

mentioning

confidence: 99%

“…14 The molecular drivers of these tumors are incompletely elucidated; however, somatic mutations and human papillomavirus have been implicated in oncogenesis of these neoplasms. 14,15 Sebaceous adenomas are more common than either sebaceomas or sebaceous epitheliomas and can be associated with syndromic microsatellite instability or mutations in genes encoding DNA mismatch repair proteins in affected Muir Torre patients. [14][15][16] Immunohistochemistry is often used to differentiate sebaceous carcinomas from benign lesions of the eyelid and other epithelial malignancies including basal and squamous cell carcinomas.…”

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confidence: 99%

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Upregulated MYC expression and p53 mutations may contribute to the oncogenesis of canine Meibomian gland carcinomas

et al. 2022

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Sebaceous carcinomas of the human ocular adnexa commonly exhibit pagetoid spread, mutations in tumor-suppressor genes, and protooncogene copy number gain. Sebaceous carcinomas are rarely reported in other species, and while the Meibomian gland (MG) represents the most common ocular adnexal structure of the canine eyelid to develop neoplasia, most are clinically and histologically benign. The objective of this study was to compare molecular features of canine MG carcinomas and adenomas. Two retrospectively identified MG carcinomas were subject to immunohistochemistry and qPCR. When compared with normal glands, MYC was upregulated in benign and malignant MG neoplasms. Aberrant p53 expression was restricted to the nuclei of intraepithelial neoplastic cells in MG carcinomas. Adipophilin expression was diminished in MG neoplasms compared with the normal MG. Our findings, if confirmed in a larger cohort of cases, could suggest that MG oncogenesis in a dog may exhibit similar molecular features as their human counterparts.

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NGS Analysis Confirms Common TP53 and RB1 Mutations, and Suggests MYC Amplification in Ocular Adnexal Sebaceous Carcinomas

Cited by 11 publications

References 68 publications

Periocular sebaceous carcinoma: updates in the diagnosis, treatment, staging, and management

Periocular sebaceous carcinoma: updates in the diagnosis, treatment, staging, and management

The 5th Edition of the World Health Organization Classification of Tumours of the Eye and Orbit

Upregulated MYC expression and p53 mutations may contribute to the oncogenesis of canine Meibomian gland carcinomas

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