Cancer-associated genodermatoses: Skin neoplasms as clues to hereditary tumor syndromes

Critical Reviews in Oncology/Hematology

Volumn 85, Issue 3, 2013, Pages 239-256

  Ponti, Giovanni ^a   Pellacani, Giovanni ^a   Seidenari, Stefania ^a   Pollio, Annamaria ^b   Muscatello, Umberto ^c   Tomasi, Aldo ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Birt Hogg Dub syndrome; Broke Spiegler syndrome; Cowden syndrome; Gardner syndrome; Gorlin syndrome; Hereditary cancer syndrome; Muir Torre syndrome; Neurofibromatosis

Indexed keywords

ALPHA INTERFERON; ALPHA2 INTERFERON; APC PROTEIN; BLEOMYCIN; CALCIUM; CELECOXIB; CP 8947; DACARBAZINE; DOXORUBICIN; ESTROGEN; FLUOROURACIL; GONADORELIN AGONIST; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; ISOTRETINOIN; MITOGEN ACTIVATED PROTEIN KINASE; NEUROFIBROMIN; PLATINUM COMPLEX; PROGESTERONE RECEPTOR MODULATOR; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; PROTEIN PATCHED 1; RAPAMYCIN; RETINOID; SALICYLIC ACID; SULINDAC; TAMOXIFEN; UNCLASSIFIED DRUG; UNINDEXED DRUG; VISMODEGIB; WNT PROTEIN;

ADENOID CYSTIC CARCINOMA; ADENOMATOUS POLYP; BASAL CELL CARCINOMA; BASAL CELL NEVUS SYNDROME; BIRT HOGG DUBE SYNDROME; BROOKE SYNDROME; CARDIOVASCULAR DISEASE; CHEMOSURGERY; CLINICAL FEATURE; COLON RESECTION; COWDEN SYNDROME; CRYOSURGERY; DIFFERENTIAL DIAGNOSIS; DRUG EFFECT; DRUG EFFICACY; DRUG SAFETY; ELECTROSURGERY; FAMILIAL CANCER; FIBROFOLLICULOMA; GARDNER SYNDROME; GASTROINTESTINAL TOXICITY; GENE MUTATION; GENODERMATOSIS; HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HUMAN; INCIDENCE; KERATOACANTHOMA; LASER SURGERY; LEIOMYOMA; MALIGNANT PERIPHERAL NERVE SHEATH TUMOR; MUIR TORRE SYNDROME; NEUROFIBROMA; NEUROFIBROMATOSIS; NUCLEOTIDE SEQUENCE; PREVALENCE; PROTEIN EXPRESSION; RECTUM POLYP; REVIEW; SEBACEOUS GLAND TUMOR; SIGNAL TRANSDUCTION; SKIN ABRASION; SKIN TUMOR; TRICHOEPITHELIOMA; TRICHOLEMMOMA; XEROSIS;

HUMANS; NEOPLASTIC SYNDROMES, HEREDITARY; SKIN NEOPLASMS;

EID: 84873525933     PISSN: 10408428     EISSN: 18790461     Source Type: Journal    
DOI: 10.1016/j.critrevonc.2012.07.001     Document Type: Review

References (150)

1. Ponder B.A.J. Inherited predisposition to cancer. Trends in Genetics 1990, 6:213-218.
2. Evgeny N., Imyanitov, Moiseyenko V.M. Drug therapy for hereditary cancers. Hereditary Cancer in Clinical Practice 2011, 9:5.
3. Halliday A.L., Sobel R.A., Martuza R.L. Benign spinal nerve sheath tumors: their occurrence sporadically and in neurofibromatosis type 1 and 2. Journal of Neurosurgery 1991, 74:248-253.
4. Laycock-van Spyk S., Thomas N., Cooper D.N., Upadhyaya M. Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Human Genomics 2011, 5:623-690.
5. National Institutes of Health Consensus Development Conference: neurofibromatosis: conference statement. Archives of Neurology 1988, 45:575-578.
6. Evans D.G., Baser M.E., McGaughran J., Sharif S., Howard E., Moran A. Malignant peripheral nerve sheath tumors in neurofibromatosis 1. Journal of Medical Genetics 2002, 39:311-314.
7. Korf B.R., Schneider G., Poussaint T.Y. Structural anomalies revealed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions. Genetics in Medicine 1999, 1:136-140.
8. Ferner R.E., Huson S.M., Thomas N., et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. Journal of Medical Genetics 2007, 44:81-88.
9. Upadhyaya M., Osborn M.J., Maynard J., Kim M.R., Tamanoi F., Cooper D.N. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Human Genetics 1997, 99:88-92.
10. Li Y., O'Connell P., Breidenbach H.H., et al. Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics 1995, 25:9-18.
11. Ponti G., Losi L., Martorana D., et al. Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. Hereditary Cancer in Clinical Practice 2011, 12(9):6.
12. Patil S., Chamberlain R.S. Neoplasms associated with germline and somatic NF1 gene mutations. Oncologist 2012, 17:101-116.
13. Rodriguez F.J., Stratakis C.A., Evans D.G. Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses Carney complex, and related syndromes. Acta Neuropathologica 2012, 123:349-367.
14. Ducatman B.S., Scheithauer B.W. Malignant peripheral nerve sheath tumors with divergent differentiation. Cancer 1984, 54:1049-1057.
15. Rodriguez F.J., Scheithauer B.W., Abell-Aleff P.C., Elamin E., Erlandson R.A. Low grade malignant peripheral nerve sheath tumor with smooth muscle differentiation. Acta Neuropathologica 2007, 113:705-709.
16. Woodruff J.M., Christensen W.N. Glandular peripheral nerve sheath tumors. Cancer 1993, 72:3618-3628.
17. Li H., Velasco-Migual S., Vass W.C., et al. Epidermal growth factor receptor signaling pathways are associated with tumorigenesis in the NF1: p53 mouse tumor model. Cancer Research 2002, 62:4507-4513.
18. Relles D., Baek J., Witkiewicz A., Yeo C.J. Periampullary and duodenal neoplasms in neurofibromatosis type 1: two cases and an updated 20-year review of the literature yielding 76 cases. Journal of Gastrointestinal Surgery 2010, 14:1052-1061.
19. Fuller C.E., Williams G.T. Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen's disease). Histopathology 1991, 19:1-11.
20. Takazawa Y., Sakurai S., Sakuma Y., et al. Gastrointestinal stromal tumors of neurofibromatosis type 1 (von Recklighausen's disease). American Journal of Surgical Pathology 2005, 29:755-763.
21. Wang J.H., Lasota J., Miettinen M. Succinate dehydrogenase subunit B (SDHB) is expressed in neurofibromatosis 1-associated gastrointestinal stromal tumors (Gists): implications for the SDHB expression based classification of Gists. Journal of Cancer 2011, 16(2):90-93.
22. van Balkom I.D., Hennekam R.C. Dermal eccrine cylindromatosis. Journal of Medical Genetics 1994, 31:321-324.
23. Sima R., Vanecek T., Kacerovska D., et al. Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type. Diagnostic Molecular Pathology 2010, 19:83-91.
24. van den Ouweland A.M., Elfferich P., Lamping R., et al. Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis. Familial Cancer 2011, 10:127-132.
25. Blake P.W., Toro J.R. Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. Human Mutation 2009, 30:1025-1036.
26. Biggs P.J., Wooster R., Ford D., et al. Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. Nature Genetics 1995, 11:441-443.
27. Young A.L., Kellermayer R., Szigeti R., Tészás A., Azmi S., Celebi J.T. CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. Clinical Genetics 2006, 70:246-249.
28. Ponti G., Nasti S., Losi L., et al. Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes. Journal of Cutaneous Pathology 2012, 39:366-371.
29. Bowen S., Gill M., Lee D.A., et al. Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. Journal of Investigative Dermatology 2005, 124:919-920.
30. Saggar S., Chernoff K.A., Lodha S., et al. CYLD mutations in familial skin appendage tumours. Journal of Medical Genetics 2008, 45:298-302.
31. Baican A., Has C., Crisan C., Orasan R., Petrescu M., Machet L. Multiple cutaneous cylindromas associated with parotid and submandibular gland cylindromas. Annales de Dermatologie et de Venereologie 1998, 125:909-911.
32. Kazakov D.V., Benkova K., Michal M., Vanecek T., Kacerovska D., Skalova A. Skin type spiradenoma of the parotid gland with malignant transformation: report of a case with analysis of the CYLD gene. Human Pathology 2009, 40:1499-1503.
33. Kazakov D.V., Zelger B., Rütten A., et al. Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome. American Journal of Surgical Pathology 2009, 33:705-719.
34. Bignell G.R., Warren W., Seal S., et al. Identification of the familial cylindromatosis tumour suppressor gene. Nature Genetics 2000, 25:160-165.
35. Kazakov D.V., Thoma-Uszynski S., Vanecek T., Kacerovska D., Grossmann P., Michal M. A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology. American Journal of Dermatopathology 2009, 31:664-673.
36. Kazakov D.V., Vanecek T., Zelger B., et al. Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. American Journal of Dermatopathology 2011, 33:251-265.
37. Kazakov D.V., Schaller J., Vanecek T., Kacerovska D., Michal M. Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors. Journal of Cutaneous Pathology 2010, 37:886-890.
38. Amaro C., Freitas I., Lamarão P., Afonso A., Skrzypczak M., Heinritz W. Multiple trichoepitheliomas-a novel mutation in the CYLD gene. Journal of the European Academy of Dermatology and Venereology 2010, 24:844-846.
39. Scholz I.M., Nümann A., Froster U.G., Helmbold P., Enk A.H., Näher H. New mutation in the CYLD gene within a family with Brooke-Spiegler syndrome. Journal der Deutschen Dermatologischen Gesellschaft 2010, 8:99-101.
40. Parren L.J., Bauer B., Hamm H., Frank J. Brooke-Spiegler syndrome complicated by unilateral hearing loss. International Journal of Dermatology 2008, 47(Suppl. 1):56-59.
41. Muir E.G., Bell A.J.Y., Barlow K.A. Multiple primary carcinomata of the colon, duodenum and larynx associated with keratoacanthoma of the face. British Journal of Surgery 1967, 54:191-195.
42. Ponti G., Losi L., Di Gregorio C., et al. Identification of Muir-Torre syndrome among patient with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability and immunohistochemistry. Cancer 2005, 103:1018-1025.
43. Fernandez-Flores A. Considerations on the performance of immunohistochemistry for mismatch repair gene proteins in cases sebaceous neoplasms and keratoacanthomas with reference to Muir-Torre syndrome. American Journal of Dermatopathology 2011, (November):23.
44. Kanitakis J. Adnexal tumours of the skin as markers of cancer-prone syndromes. Histopathology 2010, 56:133-147.
45. Ponti G., Losi L., Pedroni M., et al. Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. Journal of Investigative Dermatology 2006, 126:2302-2307.
46. Losi L., Scarselli A., Benatti P., et al. Relationship between MUC5AC and alterated expression of MLH1 protein in mucinous and non-mucinous colorectal carcinomas. Pathology, Research and Practice 2004, 200:371-377.
47. Arnold A., Payne S., Fisher S., et al. An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation. Familial Cancer 2007, 6:317-321.
48. Chhibber V., Dresser K., Mahalingam M. MSH-6: extending the reliability of immunohistochemistry as a screening tool in Muir-Torre syndrome. Modern Pathology 2008, 21:159.
49. Roncari B., Pedroni M., Maffei S., et al. Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC. Clinical Genetics 2007, 72:230-237.
50. Chhibber V., Dresser K., Mahalingam M. MSH-6: extending the reliability of immunohistochemistry as a screening tool in Muir-Torre syndrome. Modern Pathology 2008, 21:159-164.
51. Shalin S.C., Lyle S., Calonje E., Lazar A.J. Sebaceous neoplasia and the Muir-Torre syndrome: important connections with clinical implications. Histopathology 2010, 56:133-147.
52. Mangold E., Pagenstecher C., Leister M., et al. A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. Journal of Medical Genetics 2004, 41:567-572.
53. Singh R.S., Grayson W., Redston M., et al. Site and tumor type predicts DNA mismatch repair status in cutaneous sebaceous neoplasia. American Journal of Surgical Pathology 2008, 32:936-942.
54. Ponti G., Ponz de Leon M., Losi L., et al. Different phenotypes in Muir-Torre syndrome: clinical and biomolecular characterization in two Italian families. British Journal of Dermatology 2005, 152:1335-1338.
55. Ponti G., Ponz de Leon M. Muir-Torre syndrome. The Lancet Oncology 2005, 12:980-987.
56. Ponti G., Ponz de Leon M., Maffei S., et al. Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clinical Genetics 2005, 68:442-447.
57. Ponti G., Venesio T., Losi L., et al. BRAF mutations in multiple sebaceous hyperplasias of patients belonging to MYH-associated polyposis pedigrees. Journal of Investigative Dermatology 2007, 127:1387-1391.
58. Zampeli V.A., Makrantonaki E., Tzellos T., Zouboulis C.C. New pharmaceutical concepts for sebaceous gland diseases: implementing today's pre-clinical data into tomorrow's daily clinical practice. Current Pharmaceutical Biotechnology 2012, (January). [Epub ahead of print].
59. Zouboulis C.C., Boschnakow A. Chronological ageing and photoageing of the human sebaceous gland. Clinical and Experimental Dermatology 2001, 26:600-607.
60. Zouboulis C.C. Acne and sebaceous gland function. Clinics in Dermatology 2004, 22:360-366.
61. Alm T., Dencker H., Lunderquist A., et al. Gardner's syndrome. Acta Chirurgica Scandinavica 1973, 139:660-665.
62. Kanitakis J. Adnexal tumours of the skin as markers of cancer-prone syndromes. Journal of the European Academy of Dermatology and Venereology 2010, 24:379-387.
63. Ponti G., Losi L., Pellacani G., et al. Wnt pathway, angiogenetic and hormonal markers in sporadic and familial adenomatous polyposis associated juvenile nasopharyngeal angiofibromas (JNA). Applied Immunohistochemistry and Molecular Morphology 2008, 16:173-178.
64. Nakamura Y. The role of the adenomatous polyposis coli (APC) gene in human cancers. Advances in Cancer Research 1993, 621.
65. Lipkin M., Winawer S.J., Sherlok P. Early identification of individuals at increased risk for cancer of the large intestine. Clinical Bulletin 1981, 11:13-21.
66. Jarviven H.J. Epidemiology of familial adenomatous polyposis in Finland: impact of family screening on the colorectal cancer rate and survival. Gut 1992, 33:357-360.
67. Houlston R., Crabtree M., Phillips R., Crabtree M., Tomlinson I. Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes. Gut 2001, 48:1-5.
68. Mitry E., Benhamiche A.M., Jouve J.L., Clinard F., Finn-Faivre C., Faivre J. Colorectal adenocarcinoma in the patients under 45 years of age: comparison with older patients in a well-defined French population. Diseases of the Colon and Rectum 2001, 44:380-387.
69. De Pietri S., Sassatelli R., Roncucci L., et al. Clinical and biological features of adenomatosis coli in Northern Italy. Scandinavian Journal of Gastroenterology 1995, 30:771-779.
70. Caspari R., Olschwang S., Friedl W., et al. Familial adenomatous polyposis: desmoids tumors and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1,444. Human Molecular Genetics 1995, 4:337-340.
71. Spirio L., Green J., Robertson J., et al. The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect. Human Genetics 1999, 105:388-398.
72. Caspari R., Friedl W., Mandl M., et al. Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet 1994, 343:629-632.
73. Bertagnolli M.M., Eagle C.J., Zauber A.G., et al. Adenoma Prevention with Celecoxib Study Investigators: five-year efficacy and safety analysis of the adenoma prevention with celecoxib trial. Cancer Prevention Research (Philadelphia) 2009, 2:310-321.
74. Vasen H.F., Möslein G., Alonso A., et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008, 57:704-713.
75. Agostini M., Bedin C., Pucciarelli S., et al. APC I1307K mutations and forkhead box gene (FOXO1A): another piece of an interesting correlation. The International Journal of Biological Markers 2011, 13. [Epub ahead of print]. 10.5301/JBM.2011.8908.
76. Gorlin R.J. Nevoid basal cell carcinoma syndrome. Dermatologic Clinics 1995, 13:113-125.
77. Evans D.G., Ladusans E.J., Rimmer S., Burnell L.D., Thakker N., Farndon P.A. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. Journal of Medical Genetics 1993, 30:460-464.
78. Pastorino L., Cusano R., Nasti S., et al. Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Human Mutation 2005, 25:322-323.
79. Stone D.M., Hynes M., Armanini M., et al. The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature 1996, 384:129-134.
80. Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet Journal of Rare Diseases 2008, 3(November):32.
81. Jones E.A., Sajid M.I., Shenton A., Evans D.G. Basal cell carcinomas in Gorlin syndrome: a review of 202 patients. Journal of Skin Cancer 2011, 217378.
82. Johnson R.L., Rothman A.L., Xie J., et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996, 272:1668-1671.
83. Diniz M.G., Borges E.R., Guimarães A.L., et al. PTCH1 isoforms in odontogenic keratocysts. Oral Oncology 2009, 45:291-295.
84. Wicking C., Shanley S., Smyth I., et al. Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. American Journal of Human Genetics 1997, 60:21-26.
85. Barreto D.C., Gomez R.S., Bale A.E., Boson W.L., De Marco L. PTCH gene mutations in odontogenic keratocysts. Journal of Dental Research 2000, 79:1418-1422.
86. Woolgar J.A., Rippin J.W., Browne R.M. The odontogenic keratocyst and its occurrence in the nevoid basal cell carcinoma syndrome. Oral Surgery, Oral Medicine, Oral Pathology 1987, 64:727-730.
87. Lench N.J., Telford E.A., High A.S., Markham A.F., Wicking C., Wainwright B.J. Characterization of human patched germ line mutations in nevoid basal cell carcinoma syndrome. Human Genetics 1997, 100:497-502.
88. Kimonis V.E., Goldstein A.M., Pastakia B., et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. American Journal of Medical Genetics 1997, 69:299-308.
89. Bree A.F., Shah M.R., BCNS Colloquium Group Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). American Journal of Medical Genetics Part A 2011, 155A:2091-2097. 10.1002/ajmg.a.34128.
90. Ponti G., Pastorino L., Pollio A., et al. Ameloblastoma: a neglected criterion for nevoid basal cell carcinoma (Gorlin) syndrome. Fam Cancer1 2012, May. [Epub ahead of print].
91. Scales S.J., de Sauvage F.J. Mechanisms of Hedgehog pathway activation in cancer and implications for therapy. Trends in Pharmacologic Science 2009, 30(6):303-312.
92. Kasper M., Jaks V., Hohl D., Toftgård R. Basal cell carcinoma-molecular biology and potential new therapies. Journal of Clinical Investigation 2012, 122:455-463.
93. Starink T.M., van der Veen J.P., Arwert F., et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clinical Genetics 1986, 29:222-233.
94. Weary P.E., Gorlin R.J., Gentry W.C., Comer J.E., Greer K.E. Multiple hamartoma syndrome (Cowden's disease). Archives of Dermatology 1972, 106:682-690.
95. Eng C. GeneReviewsT [Internet]. PTEN hamartoma tumor syndrome (PHTS) 1993-2001, November, University of Washington, Seattle, Seattle, WA, [updated 2011 July 21]. R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens, M.P. Adam (Eds.).
96. Salem O.S., Steck W.D. Cowden's disease (multiple hamartoma and neoplasia syndrome). Journal of the American Academy of Dermatology 1983, 8:686-696.
97. Frayling I.M., Bodmer W.F., Tomlinson I.P. Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q. Cancer Genetics and Cytogenetics 1997, 97:64-69.
98. Kurek K.C., Howard E., Tenant L., et al. PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes. American Journal of Surgical Pathology 2012, (March). [Epub ahead of print].
99. Haggitt R.C., Reed B.J. Hereditary gastrointestinal polyposis syndromes. American Journal of Pathology 1986, 12:871-887.
100. Christensen A.H., Ishak K.G. Benign tumors and pseudotumors of the gallbladder Report of 180 cases. Archives of Pathology 1970, 90:423-432.
101. Marra G., Armelao F., Vecchio F.M., Percesepe A., Anti M. Cowden's disease with extensive gastrointestinal polyposis. Journal of Clinical Gastroenterology 1993, 16:1-6.
102. Stanich P.P., Owens V.L., Sweetser S., et al. Colonic polyposis and neoplasia in Cowden syndrome. Mayo Clinic Proceedings 2011, 86:489-492.
103. Pilarski R. Cowden syndrome: a critical review of the clinical literature. Journal of Genetic Counseling 2009, 18:13-27.
104. Coriat R., Mozer M., Caux F., et al. Endoscopic findings in Cowden syndrome. Endoscopy 2011, 43(August (8)):723-726. [Erratum in: Endoscopy 2011;43:1096, Epub 2011 March 24].
105. Williard W., Borgen P., Bol R., Tiwari R., Osborne M. Cowden's disease. A case report with analysis at the molecular level. Cancer 1992, 69:2969-2974.
106. Al-Zaid T., Ditelberg J.S., Prieto V.G., et al. Trichilemmomas show loss of PTEN in Cowden syndrome but only rarely in sporadic tumors. Journal of Cutaneous Pathology 2012, (February). [Epub ahead of print]. 10.1111/j.1600-0560.2012.01888.x.
107. Zabetian S., Mehregan D. Cowden syndrome: report of two cases with immunohistochemical analysis for PTEN expression. American Journal of Dermatopathology 2012, (April). [Epub ahead of print].
108. Mester J.L., Zhou M., Prescott N., Eng C. Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome. Urology 2012, (February). [Epub ahead of print].
109. Barletta J.A., Bellizzi A.M., Hornick J.L. Immunohistochemical staining of thyroidectomy specimens for PTEN can aid in the identification of patients with Cowden syndrome. American Journal of Surgical Pathology 2011, 35:1505-1511.
110. Tan M.H., Mester J.L., Ngeow J., Rybicki L.A., Orloff M.S., Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clinical Cancer Research 2012, 18:400-407.
111. Ngeow J., Mester J., Rybicki L.A., Ni Y., Milas M., Eng C. Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN SDH, or KLLN alterations. Journal of Clinical Endocrinology and Metabolism 2011, 96(12):E2063-E2071.
112. Heald B., Mester J., Rybicki L., Orloff M.S., Burke C.A., Eng C. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology 2010, 139(6):1927-1933.
113. Nelen M.R., Padberg G.W., Peeters E.A., et al. Localization of the gene for Cowden disease to chromosome 10q22-23. Nature Genetics 1996, 13:114-116.
114. Smith J.R., Marqusee E., Webb S., et al. Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. Journal of Clinical Endocrinology and Metabolism 2011, 96:34-37.
115. Laury A.R., Bongiovanni M., Tille J.C., Kozakewich H., Nosé V. Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity. Thyroid 2011, 21:135-144.
116. Singh G., Chan A.M. Post-translational modifications of PTEN and their potential therapeutic implications. Current Cancer Drug Targets 2011, 11:536-547.
117. Lindor N.M., Hand J., Burch P.A., Gibson L.E. Birt-Hogg-Dube syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosis. International Journal of Dermatology 2001, 40:653-656.
118. Nickerson M.L., Warren M.B., Toro J.R., et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell 2002, 2:157-164.
119. Verine J., Pluvinage A., Bousquet G., et al. Hereditary renal cancer syndromes: an update of a systematic review. European Urology 2010, 58(November (5)):701-710.
120. Houweling A.C., Gijezen L.M., Jonker M.A., et al. Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. British Journal of Cancer 2011, 105(December (12)):1912-1919. 10.1038/bjc.2011.463.
121. Baba M., Hong S.B., Sharma N., et al. Folliculin encoded by the BHD gene interacts with a binding protein FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proceedings of the National Academy of Sciences of the United States of America 2006, 103:15552-15557.
122. Hopkins T.G., Maher E.R., Reid E., Marciniak S.J. Recurrent pneumothorax. Lancet 2011, 377(9777):1624.
123. Zbar B., Alvord W.G., Glenn G., et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiology, Biomarkers and Prevention 2002, 11:393-400.
124. Birt A.R., Hogg G.R., Dube J. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Archives of Dermatology 1977, 113:1674-1677.
125. Pavlovich C.P., Walther M.M., Eyler R.A., et al. Renal tumors in the Birt-Hogg-Dubé syndrome. American Journal of Surgical Pathology 2002, 26:1542-1552.
126. Furuya M., Tanaka R., Koga S., et al. Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families. American Journal of Surgical Pathology 2012, 36:589-600.
127. Adley B., Smith N., Nayar R., Yang X. Birt Hogg Dubè syndrome clincopathological findings and genetic alterations. Archives of Pathology and Laboratory Medicine 2006, 130:1865-1870.
128. Palmirotta R., Savonarola A., Ludovici G., et al. Association between Birt Hogg Dube syndrome and cancer predisposition. Anticancer Research 2010, 30:751-757.
129. Cohen H.T., McGovern F.J. Renal-cell carcinoma. New England Journal of Medicine 2005, 353:2477-2490.
130. Badeloe S., Frank J. Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis. European Journal of Dermatology 2009, 19(November-December (6)):545-551.
131. Pithukpakorn M., Toro J.R., Hereditary leiomyomatosis and renal cell cancer GeneReviewsT [Internet] 1993-2006 July, University of Washington, Seattle, Seattle, WA, [update 2010 November 02]. R.A. Pagon, T.D. Birt, C.R. Dolan, K. Stephens, M.P. Adam (Eds.).
132. Wei M.H., Toure O., Glenn G.M., et al. Novel mutation in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. Journal of Medical Genetics 2006, 43:18-27.
133. Smit D.L., Mensenkamp A.R., Badeloe S., et al. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clinical Genetics 2011, 79:49-59.
134. Alam N.A., Barelay E., Rowan A.J., et al. Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Archives of Dermatology 2005, 141:199-206.
135. Stewart L., Glenn G.M., Stratton P., et al. Association of germline mutations in the fumarate hydratase gene and uterine fibroids in woman with hereditary leiomyomatosis and renal cell cancer. Archives of Dermatology 2008, 144:1584-1592.
136. Toro J.R., Nickerson M.L., Wei M.H., et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in North America. American Journal of Human Genetics 2003, 73:95-106.
137. Lehtonen H.J., Kiuru M., Ylisaukko-Oja S.K., et al. Increased risk of cancer in patients with fumarate hydratase germline mutation. Journal of Medical Genetics 2006, 43:523-526.
138. Launonen V., Vierina O., Kiuru M., et al. Inherited susceptibility to uterine leiomyomatosis and renal cell cancer. Proceedings of the National Academy of Sciences of the United States of America 2001, 98:3387-3392.
139. Ylisaukko-oja S.K., Kiuru M., Lehtonen H.J., et al. Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. International Journal of Cancer 2006, 119:283-287.
140. Tolvanen J., Uimari O., Ryynänen M., Aaltonen L.A., Vahteristo P. Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening. Human Reproduction 2012, 27:1865-1869.
141. Lehtonen H.J. Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. Familial Cancer 2011, 10:397-411.
142. Gardie B., Remenieras A., Kattygnarath D., et al. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. Journal of Medical Genetics 2011, 48:226-234.
143. Merino M.J., Torres-Cabala C., Pinto P., Linehan W.M. The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. American Journal of Surgical Pathology 2007, 31:1578-1585.
144. Lehtonen H.J., Blanco I., Piulats J.M., Herva R., Launonen V., Aaltonen L.A. Conventional renal cancer in a patient with fumarate hydratase mutation. Human Pathology 2007, 38:793-796.
145. Gatalica Z., Lilleberg S.L., Monzon F.A., et al. Renal medullary carcinomas: histopathologic phenotype associated with diverse genotypes. Human Pathology 2011, 42:1979-1988.
146. Ahvenainen T., Lehtonen H.J., Lehtonen R., et al. Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. Cancer Genetics and Cytogenetics 2008, 183:83-88.
147. Tomlinson I.P., Alam N.A., Rowan A.J., et al. Multiple leiomyoma consortium germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nature Genetics 2002, 30:406-410.
148. Bardella C., El-Bahrawy M., Frizzell N., et al. Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. Journal of Pathology 2011, 225:4-11.
149. Maxwell P.H. Seeing the smoking gun: a sensitive and specific method to visualize loss of the tumour suppressor, fumarate hydratase, in human tissues. Journal of Pathology 2011, 225:1-3.
150. Catherino W.H., Malik M., Driggers P., et al. Novel, orally active selective progesterone reception modulator CP8947 inhibits leiomyoma cell proliferation without adversely affecting endometrium or myometrium. Journal of Steroid Biochemistry and Molecular Biology 2010, 122:279-286.