Basal cell carcinoma: a paradigm for targeted therapies

Bibliography

• Stacey SN, Sulem P, Jonasdottir A, et al. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. Nat Genet 2011;43(11):1098-103
   PubMed Web of Science ®Google Scholar
• Dummer R. Epitheliale neoplasien der haut. epidemiologie, klinisches spektrum, heutige therapieoptionen. Schweizer Zeitschrift für Onkologie 2009;2:6-10
   Google Scholar
• Dummer R, Karpova MB, Barysch MJ. Basal cell carcinomas: molecular abnormalities and molecularly targeted therapies. Expert Rev Dermatol 2009;4(4):355-69
   Google Scholar
• Marcil I, Stern RS. Risk of developing a subsequent nonmelanoma skin cancer in patients with a history of nonmelanoma skin cancer: a critical review of the literature and meta-analysis. Arch Dermatol 2000;136(12):1524-30
   PubMedGoogle Scholar
• Pfeifer GP, You YH, Besaratinia A. Mutations induced by ultraviolet light. Mutat Res 2005;571(1-2):19-31
   PubMed Web of Science ®Google Scholar
• de Gruijl FR, Rebel H. Early events in UV carcinogenesis–DNA damage, target cells and mutant p53 foci. Photochem Photobiol 2008;84(2):382-7
   PubMedGoogle Scholar
• Kim MY, Park HJ, Baek SC, et al. Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias. J Dermatol Sci 2002;29(1):1-9
   PubMed Web of Science ®Google Scholar
• Armstrong BK, Kricker A. The epidemiology of UV induced skin cancer. J Photochem Photobiol B 2001;63(1-3):8-18
   PubMed Web of Science ®Google Scholar
• MacKie RM. Long-term health risk to the skin of ultraviolet radiation. Prog Biophys Mol Biol 2006;92(1):92-6
   PubMedGoogle Scholar
• Rosso S, Zanetti R, Martinez C, et al. The multicentre south European study ‘Helios'. II: Different sun exposure patterns in the aetiology of basal cell and squamous cell carcinomas of the skin. Br J Cancer 1996;73(11):1447-54
   PubMed Web of Science ®Google Scholar
• Kricker A, Armstrong BK, English DR, et al. Does intermittent sun exposure cause basal cell carcinoma? A case-control study in Western Australia. Int J Cancer 1995;60(4):489-94
   PubMed Web of Science ®Google Scholar
• Christenson LJ, Borrowman TA, Vachon CM, et al. Incidence of basal cell and squamous cell carcinomas in a population younger than 40 years. JAMA 2005;294(6):681-90
   PubMed Web of Science ®Google Scholar
• Franchi A, Massi D, Gallo O, et al. Radiation-induced cutaneous carcinoma of the head and neck: is there an early role for p53 mutations? Clin Exp Dermatol 2006;31(6):793-8
   PubMedGoogle Scholar
• Yoshinaga S, Hauptmann M, Sigurdson AJ, et al. Nonmelanoma skin cancer in relation to ionizing radiation exposure among U.S. radiologic technologists. Int J Cancer 2005;115(5):828-34
   PubMedGoogle Scholar
• Karagas MR, Stukel TA, Morris JS, et al. Skin cancer risk in relation to toenail arsenic concentrations in a US population-based case-control study. Am J Epidemiol 2001;153(6):559-65
   PubMed Web of Science ®Google Scholar
• Danaee H, Nelson HH, Liber H, et al. Low dose exposure to sodium arsenite synergistically interacts with UV radiation to induce mutations and alter DNA repair in human cells. Mutagenesis 2004;19(2):143-8
   PubMedGoogle Scholar
• Rossman TG. Mechanism of arsenic carcinogenesis: an integrated approach. Mutat Res 2003;533(1-2):37-65
   PubMedGoogle Scholar
• Hartwig A, Groblinghoff UD, Beyersmann D, et al. Interaction of arsenic(III) with nucleotide excision repair in UV-irradiated human fibroblasts. Carcinogenesis 1997;18(2):399-405
   PubMed Web of Science ®Google Scholar
• Yu HS, Liao WT, Chai CY. Arsenic carcinogenesis in the skin. J Biomed Sci 2006;13(5):657-66
   PubMed Web of Science ®Google Scholar
• Hepburn DJ, Divakar D, Bailey RR, et al. Cutaneous manifestations of renal transplantation in a New Zealand population. N Z Med J 1994;107(991):497-9
   PubMedGoogle Scholar
• Otley CC. Non-Hodgkin lymphoma and skin cancer: a dangerous combination. Australas J Dermatol 2006;47(4):231-6
   PubMedGoogle Scholar
• Hjalgrim H, Frisch M, Storm HH, et al. Non-melanoma skin cancer may be a marker of poor prognosis in patients with non-Hodgkin's lymphoma. Int J Cancer 2000;85(5):639-42
   PubMedGoogle Scholar
• Jensen AO, Olesen AB, Dethlefsen C, et al. Chronic diseases requiring hospitalization and risk of non-melanoma skin cancers–a population based study from Denmark. J Invest Dermatol 2008;128(4):926-31
   PubMedGoogle Scholar
• Asuquo ME, Agweye P, Ugare G, et al. Basal cell carcinoma in five albino Africans from the south-eastern equatorial rain forest of Nigeria. Int J Dermatol 2007;46(7):754-6
   PubMed Web of Science ®Google Scholar
• King R, Oetting W, Summers S, et al. Abnormalities of pigmentation. In: Rimoin D, Connor J, Pyeritz R, Korf B, editors. Emery and Rimoin's principles and practice of medical genetics. Churchill Livingstone Elsevier, New York; 2007. p. 3380-427
   Google Scholar
• Rees JL. The genetics of sun sensitivity in humans. Am J Hum Genet 2004;75(5):739-51
   PubMedGoogle Scholar
• Han J, Kraft P, Colditz GA, et al. Melanocortin 1 receptor variants and skin cancer risk. Int J Cancer 2006;119(8):1976-84
   PubMedGoogle Scholar
• Liboutet M, Portela M, Delestaing G, et al. MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas. J Invest Dermatol 2006;126(7):1510-17
   PubMedGoogle Scholar
• Aszterbaum M, Rothman A, Johnson RL, et al. Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. J Invest Dermatol 1998;110(6):885-8
   PubMed Web of Science ®Google Scholar
• Xie J, Murone M, Luoh SM, et al. Activating smoothened mutations in sporadic basal-cell carcinoma. Nature 1998;391(6662):90-2
   PubMed Web of Science ®Google Scholar
• Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 2008;3:32
   PubMed Web of Science ®Google Scholar
• Kraemer KH, Lee MM, Andrews AD, et al. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. Arch Dermatol 1994;130(8):1018-21
   PubMedGoogle Scholar
• Malhotra AK, Gupta S, Khaitan BK, et al. Multiple basal cell carcinomas in xeroderma pigmentosum treated with imiquimod 5% cream. Pediatr Dermatol 2008;25(4):488-91
   PubMedGoogle Scholar
• Michaelsson G, Olsson E, Westermark P. The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol 1981;61(6):497-503
   PubMed Web of Science ®Google Scholar
• Castori M, Castiglia D, Passarelli F, et al. Bazex-Dupre-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms. Eur J Med Genet 2009;52(4):250-5
   PubMedGoogle Scholar
• Efron PA, Chen MK, Glavin FL, et al. Pediatric basal cell carcinoma: case reports and literature review. J Pediatr Surg 2008;43(12):2277-80
   PubMedGoogle Scholar
• Griffin JR, Cohen PR, Tschen JA, et al. Basal cell carcinoma in childhood: case report and literature review. J Am Acad Dermatol 2007;57(5 Suppl):S97-102
   Google Scholar
• Bath-Hextall F, Leonardi-Bee J, Somchand N, et al. Interventions for preventing non-melanoma skin cancers in high-risk groups. Cochrane Database Syst Rev 2007(4):CD005414
   Google Scholar
• Wetmore C, Eberhart DE, Curran T. Loss of p53 but not ARF accelerates medulloblastoma in mice heterozygous for patched. Cancer Res 2001;61(2):513-16
   PubMed Web of Science ®Google Scholar
• Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore) 1987;66(2):98-113
   PubMed Web of Science ®Google Scholar
• Gailani MR, Bale SJ, Leffell DJ, et al. Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992;69(1):111-17
   PubMed Web of Science ®Google Scholar
• Hahn H, Wicking C, Zaphiropoulous PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996;85(6):841-51
   PubMed Web of Science ®Google Scholar
• Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996;272(5268):1668-71
   PubMed Web of Science ®Google Scholar
• Klein RD, Dykas DJ, Bale AE. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med 2005;7(9):611-19
   PubMedGoogle Scholar
• Adolphe C, Hetherington R, Ellis T, et al. Patched 1 functions as a gatekeeper by promoting cell cycle progression. Cancer Res 2006;66(4):2081-8
   PubMed Web of Science ®Google Scholar
• Hutchin ME, Kariapper MS, Grachtchouk M, et al. Sustained Hedgehog signaling is required for basal cell carcinoma proliferation and survival: conditional skin tumorigenesis recapitulates the hair growth cycle. Genes Dev 2005;19(2):214-23
   PubMed Web of Science ®Google Scholar
• Gailani MR, Stahle-Backdahl M, Leffell DJ, et al. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nat Genet 1996;14(1):78-81
   PubMed Web of Science ®Google Scholar
• Xie J. Molecular biology of basal and squamous cell carcinomas. Adv Exp Med Biol 2008;624:241-51
   PubMed Web of Science ®Google Scholar
• Lee Y, Miller HL, Jensen P, et al. A molecular fingerprint for medulloblastoma. Cancer Res 2003;63(17):5428-37
   PubMedGoogle Scholar
• Thompson MC, Fuller C, Hogg TL, et al. Genomics identifies medulloblastoma subgroups that are enriched for specific genetic alterations. J Clin Oncol 2006;24(12):1924-31
   PubMed Web of Science ®Google Scholar
• Rudin CM, Hann CL, Laterra J, et al. Treatment of medulloblastoma with Hedgehog pathway inhibitor GDC-0449. N Engl J Med 2009;361(12):1173-8
   PubMed Web of Science ®Google Scholar
• Tang JY, Marghoob AA. Emerging treatments and signaling pathway inhibitors. Semin Cutan Med Surg 2011;30(4 Suppl):S14-18
   PubMed Web of Science ®Google Scholar
• Fan H, Oro AE, Scott MP, et al. Induction of basal cell carcinoma features in transgenic human skin expressing Sonic Hedgehog. Nat Med 1997;3(7):788-92
   PubMedGoogle Scholar
• Khavari PA. Modelling cancer in human skin tissue. Nat Rev Cancer 2006;6(4):270-80
   PubMedGoogle Scholar
• Kinzler KW, Bigner SH, Bigner DD, et al. Identification of an amplified, highly expressed gene in a human glioma. Science 1987;236(4797):70-3
   PubMed Web of Science ®Google Scholar
• Pasca di Magliano M, Hebrok M. Hedgehog signalling in cancer formation and maintenance. Nat Rev Cancer 2003;3(12):903-11
   PubMed Web of Science ®Google Scholar
• Archer TC, Weeraratne SD, Pomeroy SL. Hedgehog-GLI pathway in medulloblastoma. J Clin Oncol 2012;30(17):2154-6
   PubMed Web of Science ®Google Scholar
• Kasper M, Jaks V, Hohl D, et al. Basal cell carcinoma - molecular biology and potential new therapies. J Clin Invest 2012;122(2):455-63
   PubMed Web of Science ®Google Scholar
• Grachtchouk M, Pero J, Yang SH, et al. Basal cell carcinomas in mice arise from hair follicle stem cells and multiple epithelial progenitor populations. J Clin Invest 2011;121(5):1768-81
   PubMed Web of Science ®Google Scholar
• Youssef KK, Van Keymeulen A, Lapouge G, et al. Identification of the cell lineage at the origin of basal cell carcinoma. Nat Cell Biol 2010;12(3):299-305
   PubMed Web of Science ®Google Scholar
• Epstein EH Jr. Mommy - where do tumors come from? J Clin Invest 2011;121(5):1681-3
   PubMed Web of Science ®Google Scholar
• Hauschild A, Breuninger H, Kaufmann R, et al. Short German guidelines: basal cell carcinoma. J Dtsch Dermatol Ges 2008;6(Suppl 1):S2-4
   PubMedGoogle Scholar
• Telfer NR, Colver GB, Morton CA. Guidelines for the management of basal cell carcinoma. Br J Dermatol 2008;159(1):35-48
   PubMed Web of Science ®Google Scholar
• Sterry W. Guidelines: the management of basal cell carcinoma. Eur J Dermatol 2006;16(5):467-75
   PubMedGoogle Scholar
• Kim D, Kim J, Spaunhurst K, Montoya J, Chandra K, Khodosh R, et al. Abstract LB-223: An open-label, exploratory phase II study of oral itraconazole for the treatment of basal cell carcinoma 2012. Available from: http://cancerres.aacrjournals.org/cgi/content/short/72/8_MeetingAbstracts/LB-223?rss=1
   Google Scholar
• Thissen MR, Nieman FH, Ideler AH, et al. Cosmetic results of cryosurgery versus surgical excision for primary uncomplicated basal cell carcinomas of the head and neck. Dermatol Surg 2000;26(8):759-64
   PubMed Web of Science ®Google Scholar
• Marcus SL, McIntyre WR. Photodynamic therapy systems and applications. Expert Opin Emerg Drugs 2002;7(2):321-34
   PubMedGoogle Scholar
• Szeimies RM, Ibbotson S, Murrell DF, et al. A clinical study comparing methyl aminolevulinate photodynamic therapy and surgery in small superficial basal cell carcinoma (8-20 mm), with a 12-month follow-up. J Eur Acad Dermatol Venereol 2008;22(11):1302-11
   PubMedGoogle Scholar
• Mohs FE, Jones DL, Bloom RF. Tendency of fluorouracil to conceal deep foci of invasive basal cell carcinoma. Arch Dermatol 1978;114(7):1021-2
   PubMedGoogle Scholar
• Onishi H, Morifuji Y, Kai M, et al. Hedgehog inhibitor decreases chemosensitivity to 5-fluorouracil and gemcitabine under hypoxic conditions in pancreatic cancer. Cancer Sci 2012;103(7):1272-9
   PubMed Web of Science ®Google Scholar
• Palamara F, Meindl S, Holcmann M, et al. Identification and characterization of pDC-like cells in normal mouse skin and melanomas treated with imiquimod. J Immunol 2004;173(5):3051-61
   PubMed Web of Science ®Google Scholar
• Urosevic M, Maier T, Benninghoff B, et al. Mechanisms underlying imiquimod-induced regression of basal cell carcinoma in vivo. Arch Dermatol 2003;139(10):1325-32
   PubMed Web of Science ®Google Scholar
• Wagstaff AJ, Perry CM. Topical imiquimod: a review of its use in the management of anogenital warts, actinic keratoses, basal cell carcinoma and other skin lesions. Drugs 2007;67(15):2187-210
   PubMed Web of Science ®Google Scholar
• Läuchli S, Hafner J, Hofbauer GFL, et al. Non-melanoma skin cancer. In: Dummer R, Pittelkow M, Iwatsuki K, Green A, Elwan NM, editors. Skin cancer - a world-wide perspective. Springer, Heidelberg, DE; 2011. p. 289-305
   Google Scholar
• Gollnick H, Barona CG, Frank RG, et al. Recurrence rate of superficial basal cell carcinoma following treatment with imiquimod 5% cream: conclusion of a 5-year long-term follow-up study in Europe. Eur J Dermatol 2008;18(6):677-82
   PubMed Web of Science ®Google Scholar
• Chen JK, Taipale J, Cooper MK, et al. Inhibition of Hedgehog signaling by direct binding of cyclopamine to Smoothened. Genes Dev 2002;16(21):2743-8
   PubMed Web of Science ®Google Scholar
• Binns W, James LF, Shupe JL, et al. A congenital cyclopian-type malformation in lambs induced by maternal ingestion of a range plant, Veratrum californicum. Am J Vet Res 1963;24:1164-75
   PubMed Web of Science ®Google Scholar
• Epstein EH. Basal cell carcinomas: attack of the Hedgehog. Nat Rev Cancer 2008;8(10):743-54
   PubMed Web of Science ®Google Scholar
• Tabs S, Avci O. Induction of the differentiation and apoptosis of tumor cells in vivo with efficiency and selectivity. Eur J Dermatol 2004;14(2):96-102
   PubMed Web of Science ®Google Scholar
• Robarge KD, Brunton SA, Castanedo GM, et al. GDC-0449-a potent inhibitor of the Hedgehog pathway. Bioorg Med Chem Lett 2009;19(19):5576-81
   PubMed Web of Science ®Google Scholar
• Yauch RL, Gould SE, Scales SJ, et al. A paracrine requirement for Hedgehog signalling in cancer. Nature 2008;455(7211):406-10
   PubMed Web of Science ®Google Scholar
• Sekulic. Efficacy and safety of the Hedgehog pathway inhibitor vismodegib in patients with advanced basal cell carcinoma (BCC): 12-month Erivance BCC study update. ESMO Vienna September 2012
   Google Scholar
• Graham RA, Hop CE, Borin MT, et al. Single and multiple dose intravenous and oral pharmacokinetics of the hedgehog pathway inhibitor vismodegib in healthy female subjects. Br J Clin Pharmacol 2012;74(5):788-96
   PubMed Web of Science ®Google Scholar
• Graham RA, Lum BL, Morrison G, et al. A single dose mass balance study of the Hedgehog pathway inhibitor vismodegib (GDC-0449) in humans using accelerator mass spectrometry. Drug Metab Dispos 2011;39(8):1460-7
   PubMed Web of Science ®Google Scholar
• Kim J, Tang JY, Gong R, et al. Itraconazole, a commonly used antifungal that inhibits Hedgehog pathway activity and cancer growth. Cancer Cell 2010;17(4):388-99
   PubMed Web of Science ®Google Scholar
• Health. NIo. ClinicalTrials.gov. Available from: http://clinicaltrials.gov
   Google Scholar
• Skvara H, Kalthoff F, Meingassner JG, et al. Topical treatment of Basal cell carcinomas in nevoid Basal cell carcinoma syndrome with a smoothened inhibitor. J Invest Dermatol 2011;131(8):1735-44
   PubMed Web of Science ®Google Scholar
• Gajjar A, Pizer B. Role of high-dose chemotherapy for recurrent medulloblastoma and other CNS primitive neuroectodermal tumors. Pediatr Blood Cancer 2010;54(4):649-51
   PubMedGoogle Scholar
• Von Hoff DD, LoRusso PM, Rudin CM, et al. Inhibition of the Hedgehog pathway in advanced basal-cell carcinoma. N Engl J Med 2009;361(12):1164-72
   PubMed Web of Science ®Google Scholar
• Sekulic A, Migden MR, Oro AE, et al. Efficacy and safety of vismodegib in advanced basal-cell carcinoma. N Engl J Med 2012;366(23):2171-9
   PubMed Web of Science ®Google Scholar
• Tang JY, Mackay-Wiggan JM, Aszterbaum M, et al. Inhibiting the Hedgehog pathway in patients with the basal-cell nevus syndrome. N Engl J Med 2012;366(23):2180-8
   PubMed Web of Science ®Google Scholar
• Millar SE. Molecular mechanisms regulating hair follicle development. J Invest Dermatol 2002;118(2):216-25
   PubMed Web of Science ®Google Scholar
• Chiang C, Swan RZ, Grachtchouk M, et al. Essential role for Sonic Hedgehog during hair follicle morphogenesis. Dev Biol 1999;205(1):1-9
   PubMed Web of Science ®Google Scholar
• St-Jacques B, Dassule HR, Karavanova I, et al. Sonic Hedgehog signaling is essential for hair development. Curr Biol 1998;8(19):1058-68
   PubMed Web of Science ®Google Scholar
• Hall JM, Bell ML, Finger TE. Disruption of sonic Hedgehog signaling alters growth and patterning of lingual taste papillae. Dev Biol 2003;255(2):263-77
   PubMed Web of Science ®Google Scholar
• Liu HX, Maccallum DK, Edwards C, et al. Sonic Hedgehog exerts distinct, stage-specific effects on tongue and taste papilla development. Dev Biol 2004;276(2):280-300
   PubMedGoogle Scholar
• Yauch RL, Dijkgraaf GJ, Alicke B, et al. Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblastoma. Science 2009;326(5952):572-4
   PubMed Web of Science ®Google Scholar
• Dijkgraaf GJ, Alicke B, Weinmann L, et al. Small molecule inhibition of GDC-0449 refractory smoothened mutants and downstream mechanisms of drug resistance. Cancer Res 2011;71(2):435-44
   PubMed Web of Science ®Google Scholar
• Lauth M, Bergstrom A, Shimokawa T, et al. Inhibition of GLI-mediated transcription and tumor cell growth by small-molecule antagonists. Proc Natl Acad Sci USA 2007;104(20):8455-60
   PubMed Web of Science ®Google Scholar
• Metcalfe C, de Sauvage FJ. Hedgehog fights back: mechanisms of acquired resistance against Smoothened antagonists. Cancer Res 2011;71(15):5057-61
   PubMed Web of Science ®Google Scholar
• Buonamici S, Williams J, Morrissey M, et al. Interfering with resistance to smoothened antagonists by inhibition of the PI3K pathway in medulloblastoma. Sci Transl Med 2010;2(51):51ra70
   PubMed Web of Science ®Google Scholar
• Engelman JA, Settleman J. Acquired resistance to tyrosine kinase inhibitors during cancer therapy. Curr Opin Genet Dev 2008;18(1):73-9
   PubMed Web of Science ®Google Scholar