Mutations in TP53, ZNF750, and RB1 typify ocular sebaceous carcinoma

Yongyang Bao; J. Eva Selfridge; Janet Wang; Yiqing Zhao; Junqi Cui; Kishore Guda; Zhenghe Wang; Yanbo Zhu

doi:10.1016/j.jgg.2019.06.001

Volume 46 Issue 6

Jun. 2019

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Article Navigation > Journal of Genetics and Genomics > 2019 > 46(6): 315-318

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Mutations in TP53, ZNF750, and RB1 typify ocular sebaceous carcinoma

doi: 10.1016/j.jgg.2019.06.001

Yongyang Bao^{1, #},
J. Eva Selfridge^{2, 3, 4, #},
Janet Wang^{5, 6, #},
Yiqing Zhao^{7, 8},
Junqi Cui⁹,
Kishore Guda¹⁰,
Zhenghe Wang^{11, 12},
Yanbo Zhu¹³

1
Department of Pathology, The Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, China
2
Seidman Cancer Center, University Hospitals Cleveland Medical Center, Cleveland, OH, 44106, USA
3
Case Comprehensive Cancer Center, Cleveland, OH, 44106, USA
4
Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA
5
Case Comprehensive Cancer Center, Cleveland, OH, 44106, USA
6
Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA
7
Case Comprehensive Cancer Center, Cleveland, OH, 44106, USA
8
Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA
9
Department of Pathology, The Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, China
10
Case Comprehensive Cancer Center, Cleveland, OH, 44106, USA
11
Case Comprehensive Cancer Center, Cleveland, OH, 44106, USA
12
Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, 44106, USA
13
Department of Pathology, The Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, China

More Information

Corresponding author: E-mail address: gkishore@yahoo.com (Kishore Guda); E-mail address: zxw22@case.edu (Zhenghe Wang); E-mail address: zhuyb72@163.com (Yanbo Zhu)
Received Date: 2019-04-06
Accepted Date: 2019-06-14
Rev Recd Date: 2019-05-23

Available Online: 2019-06-21

Publish Date: 2019-06-20

Abstract

These authors contributed equally to this work.

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References(25)

References

[1]	Boxer, L.D., Barajas, B., Tao, S., Zhang, J., and Khavari, P.A. (2014). ZNF750 interacts with KLF4 and RCOR1, KDM1A, and CTBP1/2 chromatin regulators to repress epidermal progenitor genes and induce differentiation genes. Genes Dev. 28, 2013-2026.
[2]	Cohen, I., Birnbaum, R.Y., Leibson, K., Taube, R., Sivan, S., and Birk, O.S. (2012). ZNF750 is expressed in differentiated keratinocytes and regulates epidermal late differentiation genes. PloS One 7, e42628.
[3]	Dai, W., Ko, J.M.Y., Choi, S.S.A., Yu, Z., Ning, L., Zheng, H., Gopalan, V., Chan, K.T., Lee, N.P., Chan, K.W., Law, S.Y., Lam, A.K., and Lung, M.L. (2017). Whole-exome sequencing reveals critical genes underlying metastasis in oesophageal squamous cell carcinoma. J Pathol. 242, 500-510.
[4]	Deprez, M., and Uffer, S. (2009). Clinicopathological features of eyelid skin tumors. A retrospective study of 5504 cases and review of literature. Am. J. Dermatopathol. 31, 256-262.
[5]	do Valle, I.F., Giampieri, E., Simonetti, G., Padella, A., Manfrini, M., Ferrari, A., Papayannidis, C., Zironi, I., Garonzi, M., Bernardi, S., Delledonne, M., Martinelli, G., Remondini, D., and Castellani, G. (2016). Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing data. BMC Bioinformatics 17, 341.
[6]	Guo, T., Gaykalova, D.A., Considine, M., Wheelan, S., Pallavajjala, A., Bishop, J.A., Westra, W.H., Ideker, T., Koch, W.M., Khan, Z., Fertig, E.J., and Califano, J.A. (2016). Characterization of functionally active gene fusions in human papillomavirus related oropharyngeal squamous cell carcinoma. Int. J. Cancer. 139, 373-382.
[7]	Harvey, N.T., Tabone, T., Erber, W., and Wood, B.A. (2016). Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis. Pathology 48, 454-462.
[8]	Hazawa, M., Lin, D.C., Handral, H., Xu, L., Chen, Y., Jiang, Y.Y., Mayakonda, A., Ding, L.W., Meng, X., Sharma, A., Samuel, S., Movahednia, M.M., Wong, R.W., Yang, H., Tong, C., and Koeffler, H.P. (2017). ZNF750 is a lineage-specific tumour suppressor in squamous cell carcinoma. Oncogene 36, 2243-2254.
[9]	Hussain, R.M., Matthews, J.L., Dubovy, S.R., Thompson, J.M., and Wang, G. (2014). UV-independent p53 mutations in sebaceous carcinoma of the eyelid. Ophthalmic Plast. Reconstr. Surg. 30, 392-395.
[10]	Kiyosaki, K., Nakada, C., Hijiya, N., Tsukamoto, Y., Matsuura, K., Nakatsuka, K., Daa, T., Yokoyama, S., Imaizumi, M., and Moriyama, M. (2010). Analysis of p53 mutations and the expression of p53 and p21WAF1/CIP1 protein in 15 cases of sebaceous carcinoma of the eyelid. Invest. Ophthalmol. Vis. Sci. 51, 7-11.
[11]	Koboldt, D.C., Zhang, Q., Larson, D.E., Shen, D., McLellan, M.D., Lin, L., Miller, C.A., Mardis, E.R., Ding, L., and Wilson, R.K. (2012). VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res. 22, 568-576.
[12]	Muqit, M.M., Foot, B., Walters, S.J., Mudhar, H.S., Roberts, F., and Rennie, I.G. (2013). Observational prospective cohort study of patients with newly-diagnosed ocular sebaceous carcinoma. Br. J. Ophthalmol. 97, 47-51.
[13]	North, J.P., Golovato, J., Vaske, C.J., Sanborn, J.Z., Nguyen, A., Wu, W., Goode, B., Stevers, M., McMullen, K., Perez White, B.E., Collisson, E.A., Bloomer, M., Solomon, D.A., Benz, S.C., and Cho, R.J. (2018). Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma. Nat. Commun. 9, 1894.
[14]	Otsuka, R., Akutsu, Y., Sakata, H., Hanari, N., Murakami, K., Kano, M., Takahashi, M., Matsumoto, Y., Sekino, N., Yokoyama, M., Iida, K., and Matsubara, H. (2017). ZNF750 expression as a novel candidate biomarker of chemoradiosensitivity in esophageal squamous cell carcinoma. Oncology 93, 197-203.
[15]	Otsuka, R., Akutsu, Y., Sakata, H., Hanari, N., Murakami, K., Kano, M., Toyozumi, T., Takahashi, M., Matsumoto, Y., Sekino, N., Yokoyama, M., Okada, K., Shiraishi, T., Komatsu, A., Iida, K., and Matsubara, H. (2018). ZNF750 expression is a potential prognostic biomarker in esophageal squamous cell carcinoma. Oncology 94, 142-148.
[16]	Pan, L., Yang, H., Xu, C., Chen, S., Meng, Z., Li, K., and Chen, H. (2018). ZNF750 inhibited the malignant progression of oral squamous cell carcinoma by regulating tumor vascular microenvironment. Biomed. Pharmacother. 105, 566-572.
[17]	Sen, G.L., Boxer, L.D., Webster, D.E., Bussat, R.T., Qu, K., Zarnegar, B.J., Johnston, D., Siprashvili, Z., and Khavari, P.A. (2012). ZNF750 is a p63 target gene that induces KLF4 to drive terminal epidermal differentiation. Dev. Cell 22, 669-677.
[18]	Shields, J.A., Demirci, H., Marr, B.P., Eagle, R.C., Jr., and Shields, C.L. (2004). Sebaceous carcinoma of the eyelids: personal experience with 60 cases. Ophthalmology 111, 2151-2157.
[19]	Sun, B.K., Boxer, L.D., Ransohoff, J.D., Siprashvili, Z., Qu, K., Lopez-Pajares, V., Hollmig, S.T., and Khavari, P.A. (2015). CALML5 is a ZNF750- and TINCR-induced protein that binds stratifin to regulate epidermal differentiation. Genes Dev. 29, 2225-2230.
[20]	Tetzlaff, M.T., Singh, R.R., Seviour, E.G., Curry, J.L., Hudgens, C.W., Bell, D., Wimmer, D.A., Ning, J., Czerniak, B.A., Zhang, L., Davies, M.A., Prieto, V.G., Broaddus, R.R., Ram, P., Luthra, R., and Esmaeli, B. (2016). Next-generation sequencing identifies high frequency of mutations in potentially clinically actionable genes in sebaceous carcinoma. J. Pathol. 240, 84-95.
[21]	Tetzlaff, M.T., Curry, J.L., Ning, J., Sagiv, O., Kandl, T.L., Peng, B., Bell, D., Routbort, M., Hudgens, C.W., Ivan, D., Kim, T.B., Chen, K., Eterovic, A.K., Shaw, K., Prieto, V.G., Yemelyanova, A., and Esmaeli, B. (2019). Distinct biological types of ocular adnexal sebaceous carcinoma: HPV-driven and virus-negative tumors arise through nonoverlapping molecular-genetic alterations. Clin. Cancer Res. 25, 1280-1290.
[22]	Xu, Y., Li, F., Jia, R., and Fan, X. (2018). Updates on the clinical diagnosis and management of ocular sebaceous carcinoma: a brief review of the literature. Onco. Targets Ther. 11, 3713-3720.
[23]	Yang, H., Pan, L., Xu, C., Zhang, Y., Li, K., Chen, S., Zhang, B., Liu, Z., Wang, L.X., and Chen, H. (2017). Overexpression of tumor suppressor gene ZNF750 inhibits oral squamous cell carcinoma metastasis. Oncol. Lett. 14, 5591-5596.
[24]	Yu, S.S., Zhao, Y., Zhao, H., Lin, J.Y., and Tang, X. (2018). A retrospective study of 2228 cases with eyelid tumors. Int. J. Ophthalmol. 11, 1835-1841.
[25]	Zurcher, M., Hintschich, C.R., Garner, A., Bunce, C., and Collin, J.R. (1998). Sebaceous carcinoma of the eyelid: a clinicopathological study. Br. J. Ophthalmol. 82, 1049-1055.