Distinct Biological Types of Ocular Adnexal Sebaceous Carcinoma: HPV-Driven and Virus-Negative Tumors Arise through Nonoverlapping Molecular-Genetic Alterations.
Adult
Aged
Aged, 80 and over
Epidermal Cyst
/ genetics
Eye Neoplasms
/ genetics
Female
Humans
Male
Middle Aged
Mutation
Neoplasms, Adnexal and Skin Appendage
/ genetics
Papillomaviridae
/ pathogenicity
Papillomavirus Infections
/ genetics
Receptors, Notch
/ genetics
Retinoblastoma Binding Proteins
/ genetics
Sequence Analysis, RNA
Tumor Suppressor Protein p53
/ genetics
Ubiquitin-Protein Ligases
/ genetics
Exome Sequencing
Journal
Clinical cancer research : an official journal of the American Association for Cancer Research
ISSN: 1557-3265
Titre abrégé: Clin Cancer Res
Pays: United States
ID NLM: 9502500
Informations de publication
Date de publication:
15 02 2019
15 02 2019
Historique:
received:
31
05
2018
revised:
25
07
2018
accepted:
02
11
2018
pubmed:
14
11
2018
medline:
21
4
2020
entrez:
14
11
2018
Statut:
ppublish
Résumé
Ocular adnexal (OA) sebaceous carcinoma is an aggressive malignancy of the eyelid and ocular adnexa that frequently recurs and metastasizes, and effective therapies beyond surgical excision are lacking. There remains a critical need to define the molecular-genetic drivers of the disease to understand carcinomagenesis and progression and to devise novel treatment strategies. We present next-generation sequencing of a targeted panel of cancer-associated genes in 42 and whole transcriptome RNA sequencing from eight OA sebaceous carcinomas from 29 patients. We delineate two potentially distinct molecular-genetic subtypes of OA sebaceous carcinoma. The first is defined by somatic mutations impacting Together, our findings establish a potential molecular-genetic framework by which to understand the development and progression of OA sebaceous carcinoma and provide key molecular-genetic insights to direct the design of novel therapeutic interventions.
Identifiants
pubmed: 30420449
pii: 1078-0432.CCR-18-1688
doi: 10.1158/1078-0432.CCR-18-1688
doi:
Substances chimiques
RB1 protein, human
0
Receptors, Notch
0
Retinoblastoma Binding Proteins
0
TP53 protein, human
0
Tumor Suppressor Protein p53
0
Ubiquitin-Protein Ligases
EC 2.3.2.27
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1280-1290Informations de copyright
©2018 American Association for Cancer Research.