| [13] |
Laury AR, Bongiovanni M, Tille JC, et al. Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity[J]. Thyroid，2011，21(2): 135-135.
|
| [14] |
Joanne N, Jessica M, Rybicki LA, et al. 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[J]. J Clin Endocr Metab，2011，96(12):E2063-2071.
|
| [15] |
Milas M, Mester J, Metzger R, et al. Should patients with Cowden syndrome undergo prophylactic thyroidectomy？[J]．Surgery，2012，152(6): 1201-1210.
|
| [16] |
Modi, Rohan M, Stanich, et al. Diffuse Esophageal Glycogenic Acanthosis and Colon Polyposis in a Patient With Cowden Syndrome[J]. Clin Gastroenterol Hepatol，2017, 15(8): e131-e132.
|
| [17] |
Stanich PP, Owens VL, Sweetser S, et al. Colonic polyposis and neoplasia in Cowden syndrome[J]. Mayo Clin Proc，2011，86(6): 489-492.
|
| [18] |
Levi Z, Baris HN, Kedar I, et al. Upper and Lower Gastrointestinal Findings in PTEN Mutation–Positive Cowden Syndrome Patients Participating in an Active Surveillance Program[J]．Clin Transl Gastroenterol，2011，2(11): e5.
|
| [19] |
Zhou XP, Marsh DJ, Morrison CD, et al. Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults[J]. Am J Hum Genet，2003，73(5): 1191-1198.
|
| [20] |
Starink TM, Veen J, Arwert F, et al. The cowden syndrome: a clinical and genetic study in 21 patients[J]. Clin Genet，1986，29(3): 222-233.
|
| [21] |
Hanssen A, Werquin H, Suys E, et al. Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations[J]. Clin Genet，1993，44(6): 281-286.
|
| [22] |
Robert P, Randall B, Wendy K, et al. Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria[J]. J National Cancer Institute, 2013，105(21): 1607-1616.
|
| [23] |
ThiffaultI, SchwartzCE, KaloustianVD，et al. Mutation analysis of the tumor suppressor pten and the glypican 3 (gpc3) gene in patients diagnosed with proteus syndrome[J]. Am J Med Genet Part A，2010，130A(2):123-127.
|
| [24] |
刘玉环，王锡智，蔡在龙，等．PTEN基因突变与遗传性癌症综合征及其相关疾病的研究进展[J]．第二军医大学学报，2005，26(1):90-92.
|
| [25] |
何清云，徐颖，黎徐，等. Cowden综合征1例 [J/CD]. 中国临床案例成果数据库，2022, 4(1) : E01713.
|
| [26] |
Pilarski R. Cowden syndrome: a critical review of the clinical literature[J]. J Genet Couns，2009，18(1):13-27.
|
| [1] |
Eric D, Lynch EAO, Ming K Lee, et al. Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis[J]. Am J Hum Genet，1997，61:1254.
|
| [2] |
Nelen MR, Kremer H, Konings IB, et al. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations[J]. Eur J Hum Genet，1999，7(3):267-273.
|
| [3] |
Marsh DJ, Valérie C, Lunetta KL, et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation[J]. Hum Mol Genet，1998，7(3):507-515.
|
| [4] |
Marsh DJ, Kum JB, Lunetta KL, et al. PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome[J]. Hum Mol Genet，1999, 8(8):1461-1472.
|
| [5] |
Xiao-Ping, Zhou, Heather, et al. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes[J]. Lancet，2001，358(9277):210-211.
|
| [6] |
Lloyd KM, Dennis M. Cowden′s disease. A possible new symptom complex with multiple system involvement[J]. Ann Int Med，1963，58(58): 136-142.
|
| [7] |
Stambolic V, Suzuki A, Pompa J, et al. Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN[J]. Cell，1998，95(1): 29-39.
|
| [8] |
Keniry M, Parsons R. The role of PTEN signaling perturbations in cancer and in targeted therapy[J]. Oncogene，2008，27(41): 5477-5485.
|
| [9] |
SansalI. The Biology and Clinical Relevance of the PTEN Tumor Suppressor Pathway[J]. J Clin Oncol，2004，22(14): 2954-2963.
|
| [10] |
Hildenbrand C, Burgdorf W, Lautenschlager S. Cowden Syndrome – Diagnostic Skin Signs[J]. Dermatology，2001，202(4):362-366.
|
| [11] |
Brownstein MH, Mehregan AH, Bikowski JB, et al. The dermatopathology of Cowden′s syndrome[J]. Br J Dermatol，2010，100(6): 667-673.
|
| [12] |
Hall JE, Abdollahian DJ, Sinard RJ. Thyroid disease associated with Cowden syndrome: A meta-analysis[J]. Head & Neck，2013，35 (8): 1189-1194.
|