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Loss of ZNF750 in ocular and cutaneous sebaceous carcinoma.
- Source :
-
Journal of cutaneous pathology [J Cutan Pathol] 2019 Oct; Vol. 46 (10), pp. 736-741. Date of Electronic Publication: 2019 Jul 08. - Publication Year :
- 2019
-
Abstract
- Background: Sebaceous carcinoma (SeC) is an uncommon malignancy arising from sebaceous glands of the conjunctiva and skin. Recurrent mutations in the ZNF750 were recently identified in ocular SeC. We assessed whether ZNF750 loss is a specific feature of ocular SeC or a general feature of sebaceous tumors.<br />Methods: Immunostaining for ZNF750 expression was performed in 54 benign and malignant sebocytic proliferations. Staining for ZNF750 was scored on a three-tier scale: positive (>75%), partially positive (5%-74%), and negative (<5%).<br />Results: ZNF750 expression was negative in 4/11 ocular SeC, and partially positive in 4/11 ocular SeC and 6/13 cutaneous SeC. No extraocular tumors were negative. No loss was found in sebaceous adenoma or sebaceous hyperplasia. In nine previously sequenced ocular SeCs, two lacked detectable somatic mutations in ZNF750, but showed complete loss of staining, indicating non-mutational inactivation of ZNF750.<br />Conclusion: We show complete loss of the ZNF750 epidermal differentiation regulator in about half of ocular SeC, highlighting the most common genetic defect in this cancer type. Loss of ZNF750 expression is seen even in tumors without truncating mutations and reduced in many of the remaining ocular and cutaneous SeC. In contrast, no ZNF750 loss was detected in benign sebaceous proliferations.<br /> (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Subjects :
- Adult
Aged
Aged, 80 and over
Female
Humans
Male
Middle Aged
Tumor Suppressor Proteins
Adenocarcinoma, Sebaceous metabolism
Adenocarcinoma, Sebaceous pathology
Eye Neoplasms metabolism
Eye Neoplasms pathology
Gene Expression Regulation, Neoplastic
Neoplasm Proteins biosynthesis
Sebaceous Gland Neoplasms metabolism
Sebaceous Gland Neoplasms pathology
Transcription Factors biosynthesis
Subjects
Details
- Language :
- English
- ISSN :
- 1600-0560
- Volume :
- 46
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Journal of cutaneous pathology
- Publication Type :
- Academic Journal
- Accession number :
- 31148199
- Full Text :
- https://doi.org/10.1111/cup.13516