TERT promoter mutation is uncommon in acral lentiginous melanoma

Melanoma is a heterogeneous group of diseases with distinct sets of genetic changes. Recurrent and mutually exclusive C>T or CC>TT transition mutations were identified in the promoter region of the reverse transcriptase catalytic subunit of the telomerase gene (TERT) in melanoma recently, and it was suggested that they enhanced the expression of TERT gene and played important roles in the melanoma pathogenesis. These mono or di‐nucleotide transitions were ultraviolet (UV)‐signature mutations.

[1]  P. Rothberg,et al.  Mutations of the TERT promoter are common in basal cell carcinoma and squamous cell carcinoma , 2014, Modern Pathology.

[2]  D. Schadendorf,et al.  TERT promoter mutations are frequent in atypical fibroxanthomas and pleomorphic dermal sarcomas , 2014, Modern Pathology.

[3]  K. Kinzler,et al.  TERT promoter mutations occur early in urothelial neoplasia and are biomarkers of early disease and disease recurrence in urine. , 2013, Cancer research.

[4]  Scott L. Pomeroy,et al.  TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma , 2013, Acta Neuropathologica.

[5]  D. Schadendorf,et al.  TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism , 2013, Proceedings of the National Academy of Sciences.

[6]  P. Kleihues,et al.  TERT promoter mutations in primary and secondary glioblastomas , 2013, Acta Neuropathologica.

[7]  J. Bishop,et al.  Highly prevalent TERT promoter mutations in aggressive thyroid cancers. , 2013, Endocrine-related cancer.

[8]  Miguel Melo,et al.  Frequency of TERT promoter mutations in human cancers , 2013, Nature Communications.

[9]  T. Chan,et al.  Frequent somatic TERT promoter mutations in thyroid cancer: higher prevalence in advanced forms of the disease. , 2013, The Journal of clinical endocrinology and metabolism.

[10]  D. Schadendorf,et al.  TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours , 2013, British Journal of Cancer.

[11]  D. Schadendorf,et al.  Lack of SF3B1 R625 mutations in cutaneous melanoma , 2013, Diagnostic Pathology.

[12]  D. Schadendorf,et al.  Conjunctival Melanomas Harbor BRAF and NRAS Mutations and Copy Number Changes Similar to Cutaneous and Mucosal Melanomas , 2013, Clinical Cancer Research.

[13]  Gary L. Gallia,et al.  TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal , 2013, Proceedings of the National Academy of Sciences.

[14]  D. Schadendorf,et al.  TERT Promoter Mutations in Familial and Sporadic Melanoma , 2013, Science.

[15]  J. Malvehy,et al.  Genetic alterations in RAS‐regulated pathway in acral lentiginous melanoma , 2013, Experimental dermatology.

[16]  K. Rudolph,et al.  The Role of Telomeres in Stem Cells and Cancer , 2013, Cell.

[17]  A. Bowcock,et al.  Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma , 2013, Nature Genetics.

[18]  Arun D. Singh,et al.  Current appraisal of conjunctival melanocytic tumors: classification and treatment. , 2011, Future oncology.

[19]  A. Zembowicz,et al.  Melanocytic lesions of the conjunctiva. , 2010, Archives of pathology & laboratory medicine.

[20]  J. O'Brien,et al.  Mutations in GNA11 in uveal melanoma. , 2010, The New England journal of medicine.

[21]  J. Fridlyand,et al.  Distinct sets of genetic alterations in melanoma. , 2005, The New England journal of medicine.

[22]  N. Hayward,et al.  Activation of the MAPK pathway is a common event in uveal melanomas although it rarely occurs through mutation of BRAF or RAS , 2005, British Journal of Cancer.

[23]  J. Shay,et al.  Senescence and immortalization: role of telomeres and telomerase. , 2005, Carcinogenesis.

[24]  P. Wiedemann,et al.  Absence of Mutations of the BRAF Gene and Constitutive Activation of Extracellular-Regulated Kinase in Malignant Melanomas of the Uvea , 2003, Laboratory Investigation.

[25]  David J. Wilson,et al.  Absence of BRAF and NRAS mutations in uveal melanoma. , 2003, Cancer research.

[26]  I. Chowers,et al.  Lack of BRAF mutation in primary uveal melanoma. , 2003, Investigative ophthalmology & visual science.

[27]  T. Godfrey,et al.  Gene amplifications characterize acral melanoma and permit the detection of occult tumor cells in the surrounding skin. , 2000, Cancer research.

[28]  R. MacKie,et al.  Telomerase activity in melanoma and non-melanoma skin cancer , 1999, British Journal of Cancer.

[29]  G. Roos,et al.  Telomeres and telomerase in normal and malignant haematopoietic cells. , 1997, European journal of cancer.

[30]  P. Boukamp,et al.  Telomerase activity in the regenerative basal layer of the epidermis inhuman skin and in immortal and carcinoma-derived skin keratinocytes. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[31]  C. Shields,et al.  Conjunctival melanoma: outcomes based on tumor origin in 382 consecutive cases. , 2011, Ophthalmology.

[32]  G. Barsh,et al.  Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi , 2010 .

[33]  D. Schadendorf,et al.  Highly Recurrent TERT Promoter Mutations in Human Melanoma , 2022 .