| [1] |
Turcot J, Despres JP, St Pierre F. Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases[J]. Dis Colon Rectum, 1959, 2: 465-468. DOI: 10.1007/BF02616938.
doi: 10.1007/BF02616938
|
| [2] |
Lynch HT, de la Chapelle A. Hereditary colorectal cancer[J]. N Engl J Med, 2003, 348(10): 919-932. DOI: 10.1056/NEJMra012242.
doi: 10.1056/NEJMra012242
|
| [3] |
Khattab A, Monga DK. Turcot syndrome[M]// Treasure Island (FL): StatPearls Publishing, 2021.
|
| [4] |
Paraf F, Jothy S, Van Meir EG. Brain tumor-polyposis syndrome: two genetic diseases?[J]. J Clin Oncol, 1997, 15(7): 2744-2758. DOI: 10.1200/JCO.1997.15.7.2744.
doi: 10.1200/JCO.1997.15.7.2744
pmid: 9215849
|
| [5] |
Vijapura C, Saad Aldin E, Capizzano AA, et al. Genetic syndromes associated with central nervous system tumors[J]. Radiographics, 2017, 37(1): 258-280. DOI: 10.1148/rg.2017160057.
doi: 10.1148/rg.2017160057
pmid: 27911673
|
| [6] |
Ozerov SS, Zakharov IV, Talypov SR, et al. Turcot syndrome. Rare observation and literature review[J]. Zh Vopr Neirokhir Im N N Burdenko, 2013, 77(3): 49-53.
|
| [7] |
从志杰, 刘连杰, 傅传刚. 胶质瘤息肉病综合征[J]. 中国普通外科杂志, 2009, 18(4): 394-396.
|
| [8] |
Ninclaus VGS, Walraedt S, Baert E, et al. Diplopia as presenting sign of Turcot syndrome[J]. Int Ophthalmol, 2017, 37(1): 275-278. DOI: 10.1007/s10792-016-0246-z.
doi: 10.1007/s10792-016-0246-z
|
| [9] |
Radin DR, Fortgang KC, Zee CS, et al. Turcot syndrome: a case with spinal cord and colonic neoplasms[J]. AJR Am J Roentgenol, 1984, 142(3): 475-476. DOI: 10.2214/ajr.142.3.475.
doi: 10.2214/ajr.142.3.475
|
| [10] |
张淑红, 朱红, 周小鸽, 等. Turcot综合征合并肠道Burkitt淋巴瘤的临床病理观察[J]. 诊断病理学杂志, 2012, 19(4): 270-273. DOI: 10.3969/j.issn.1007-8096.2012.04.011.
doi: 10.3969/j.issn.1007-8096.2012.04.011
|
| [11] |
Ma S, Hu Y, Yang J, et al. Turcot’s syndrome associated with intestinal non-Hodgkin’s lymphoma: case report and review of literature[J]. Clin Neurol Neurosurg, 2013, 115(2): 117-120. DOI: 10.1016/j.clineuro.2012.04.026.
doi: 10.1016/j.clineuro.2012.04.026
|
| [12] |
Cavenee WK, Burger PC, van Meir EG. Turcot syndrome[A]. WHO classification of tumours. Pathology and genetics of tumours of the nervous system[M]. Lyon: IARC, 2000: 238-239.
|
| [13] |
Bisgaard ML, Bülow S. Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts[J]. Am J Med Genet A, 2006, 140(3): 200-204. DOI: 10.1002/ajmg.a.31010.
doi: 10.1002/ajmg.a.31010
pmid: 16411234
|
| [14] |
Tamiya T, Hamazaki S, Ono Y, et al. Ganglioglioma in a patient with Turcot syndrome. Case report[J]. J Neurosurg, 2000, 92(1): 170-175. DOI: 10.3171/jns.2000.92.1.0170.
doi: 10.3171/jns.2000.92.1.0170
pmid: 10616098
|
| [15] |
Barreda Costa C, Chu Revollar L, Herrera Alzamora A. Meduloblastoma and recurrent meningioma in association with colonic polyposis: an unusual presentation of Turcot syndrome[J]. Rev Gastroenterol Peru, 2019, 39(3): 280-283.
pmid: 31688854
|
| [16] |
Onilude OE, Lusher ME, Lindsey JC, et al. APC and CTNNB1 mutations are rare in sporadic ependymomas[J]. Cancer Genet Cytogenet, 2006, 168(2): 158-161. DOI: 10.1016/j.cancergen-cyto.2006.02.019.
doi: 10.1016/j.cancergen-cyto.2006.02.019
|
| [17] |
Fritch Lilla SA, Yi JS, Hall BA, et al. A novel APC gene mutation associated with a severe phenotype in a patient with Turcot syndrome[J]. J Pediatr Hematol Oncol, 2014, 36(3): e177-e179. DOI: 10.1097/MPH.0000000000000009.
doi: 10.1097/MPH.0000000000000009
|
| [18] |
Itoh H, Hirata K, Ohsato K. Turcot’s syndrome and familial adenomatous polyposis associated with brain tumor: review of related literature[J]. Int J Colorectal Dis, 1993, 8(2): 87-94. DOI: 10.1007/BF00299334.
doi: 10.1007/BF00299334
pmid: 8409693
|
| [19] |
Groen EJ, Roos A, Muntinghe FL, et al. Extra-intestinal manifestations of familial adenomatous polyposis[J]. Ann Surg Oncol, 2008, 15(9): 2439-2450. DOI: 10.1245/s10434-008-9981-3.
doi: 10.1245/s10434-008-9981-3
pmid: 18612695
|
| [20] |
Ramachandra C, Challa VR, Shetty R. Constitutional mismatch repair deficiency syndrome: do we know it?[J]. Indian J Hum Genet, 2014, 20(2): 192-194. DOI: 10.4103/0971-6866.142902.
doi: 10.4103/0971-6866.142902
pmid: 25400351
|
| [21] |
Stoffel EM, Mangu PB, Gruber SB, et al. Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines[J]. J Clin Oncol, 2015, 33(2): 209-217. DOI: 10.1200/JCO.2014.58.1322.
doi: 10.1200/JCO.2014.58.1322
pmid: 25452455
|
| [22] |
Hamilton SR, Liu B, Parsons RE, et al. The molecular basis of Turcot’s syndrome[J]. N Engl J Med, 1995, 332(13): 839-847. DOI: 10.1056/NEJM199503303321302.
doi: 10.1056/NEJM199503303321302
|
| [23] |
Bruwer Z, Algar U, Vorster A, et al. Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome[J]. J Genet Couns, 2014, 23(2): 147-155. DOI: 10.1007/s10897-013-9659-2.
doi: 10.1007/s10897-013-9659-2
|
), 张金库2, 舒准3
