Turcot syndrome. Rare observation and literature review

Ozerov S.S.

GU FNKTs detskoĭ gematologii, onkologii i immunologii Minzdrava RF im. D. Rogacheva, Moskva

Zakharov I.V.

Federal'nyĭ nauchno-klinicheskiĭ tsentr detskoĭ gematologii, onkologii i immunologii im. Dmitriia Rogacheva, Moskva

Talypov S.R.

Kafedra detskoĭ khirurgii Rossiĭskogo gosudarstvennogo meditsinskogo universiteta, Detskaia gorodskaia klinicheskaia bol'nitsa #13 im. N.F. Filatova, Moskva

Konovalov D.M.

Federal'nyĭ nauchno-klinicheskiĭ tsentr detskoĭ gematologii, onkologii i immunologii im. Dmitriia Rogacheva, Moskva

Kisliakov A.N.

Federal'nyĭ nauchno-klinicheskiĭ tsentr detskoĭ gematologii, onkologii i immunologii im. Dmitriia Rogacheva, Moskva

Kachanov D.Yu.

Dmitry Rogachev National Research and Practical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia

Zheludkova O.G.

GU FNKTs detskoĭ gematologii, onkologii i immunologii Minzdrava RF im. D. Rogacheva, Moskva

Varfolomeyeva S.R.

Dmitry Rogachev National Research and Practical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia

Rachkov V.E.

Detskaia gorodskaia klinicheskaia bol'nitsa #13 im. N.F. Filatova;
Rossiĭskiĭ gosudarstvennyĭ meditsinskiĭ universitet, Moskva

Turcot syndrome. Rare observation and literature review

Authors:

Ozerov S.S., Zakharov I.V., Talypov S.R., Konovalov D.M., Kisliakov A.N., Kachanov D.Yu., Zheludkova O.G., Varfolomeyeva S.R., Rachkov V.E.

More about the authors

Journal: Burdenko's Journal of Neurosurgery. 2013;77(3): 49‑53

Downloaded: 89

To cite this article:

Ozerov SS, Zakharov IV, Talypov SR, et al. . Turcot syndrome. Rare observation and literature review. Burdenko's Journal of Neurosurgery. 2013;77(3):49‑53. (In Russ., In Engl.)

Close metadata

Recommended articles:

Choice of fractionation regimen for Grade IV gliomas depending on rapid early progression. Burdenko's Journal of Neurosurgery. 2024;(5):23-29

A Novel Rat Glioblastoma 101/8 Model: A Comparative PET-CT Study with C6 Rat model. Burdenko's Journal of Neurosurgery. 2024;(6):54-62

D2 and D3 lymph node dissection for colon cancer. Pirogov Russian Journal of Surgery. 2024;(7):25-35

Patients with long-term survival in malignant gliomas after photodynamic therapy. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;(6):54-61

Personalized evaluation of D3-lymph node dissection complexity for right colorectal cancer considering anatomy of superior mesenteric vessels. Pirogov Russian Journal of Surgery. 2024;(10):29-37

Early chemotherapy between surgery and radiotherapy in grade 4 gliomas. P.A. Herzen Journal of Oncology. 2024;(5):12-17

Antigen receptors in the development of CAR-T cells for glioblastoma immunotherapy. P.A. Herzen Journal of Oncology. 2024;(6):91-95

The choice of radiotherapy dose fractionation regimen for grade 4 gliomas depending on the status of MGMT. P.A. Herzen Journal of Oncology. 2025;(1):13-18

Controversial issues of colon stenting in case of tumor obstructive intestinal obstruction: surgical and oncological aspects. Endoscopic Surgery. 2025;(2):65-75

The Turcot syndrome is a rare disease which is characterized by a combination of a brain tumor with a у at which the neoplasm of the colon. About 150 of such observations are described in world literature. Our own observation and a literature review are presented in this article.

Keywords:

Turcot syndrome

brain tumor

colon cancer

glioblastoma

Authors:

Ozerov S.S.

GU FNKTs detskoĭ gematologii, onkologii i immunologii Minzdrava RF im. D. Rogacheva, Moskva

Zakharov I.V.

Federal'nyĭ nauchno-klinicheskiĭ tsentr detskoĭ gematologii, onkologii i immunologii im. Dmitriia Rogacheva, Moskva

Talypov S.R.

Kafedra detskoĭ khirurgii Rossiĭskogo gosudarstvennogo meditsinskogo universiteta, Detskaia gorodskaia klinicheskaia bol'nitsa #13 im. N.F. Filatova, Moskva

Konovalov D.M.

Federal'nyĭ nauchno-klinicheskiĭ tsentr detskoĭ gematologii, onkologii i immunologii im. Dmitriia Rogacheva, Moskva

Kisliakov A.N.

Federal'nyĭ nauchno-klinicheskiĭ tsentr detskoĭ gematologii, onkologii i immunologii im. Dmitriia Rogacheva, Moskva

Kachanov D.Yu.

Dmitry Rogachev National Research and Practical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia

Zheludkova O.G.

GU FNKTs detskoĭ gematologii, onkologii i immunologii Minzdrava RF im. D. Rogacheva, Moskva

Varfolomeyeva S.R.

Dmitry Rogachev National Research and Practical Center for Pediatric Hematology, Oncology and Immunology, Moscow, Russia

Rachkov V.E.

Detskaia gorodskaia klinicheskaia bol'nitsa #13 im. N.F. Filatova;
Rossiĭskiĭ gosudarstvennyĭ meditsinskiĭ universitet, Moskva

List of references:

Kachanov D.Yu., Abdullaev R.T., Shamanic T.V., et al. Genetic syndromes in children with malignancies. Oncohematology (Moscow), 2010; 3: 29–35.
Kornilov A.V., Pravosudov I.V. Hereditary nonpolyposis cancer colon: modern state of the problem. Cancer proctology (Moscow). 2011; 3: 7–11.
Agostini M., Tibiletti M.G., Lucci-Cordisco E. et al. Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. Am J Gastroenterol 2005; 100: 8: 1886—1891.
Al-Sukhni W., Aronson M., Gallinger S. Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome. Surg Clin North Am 2008; 88: 4: 819—844.
Burn J., Bishop D.T., Chapman P.D. et al. International CAPP consortium. A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis. Cancer Prev Res (Phila) 2011; 4: 5: 655—665.
Burn J., Gerdes A.M., Macrae F. et al. CAPP2 Investigators. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 2011; 378: 9809: 2081—2087.
Crail H. Multiple primary malignancies arising in the rectum, brain, and thyroid; report of a case. US Nav Med Bull 1949; 49: 1: 123—128.
De Rosa M., Fasano C., Panariello L. et al. Evidence for a recessive inheritance of Turcot’s syndrome caused by compound heterozygous mutations within the PMS2 gene. Oncogene 2000; 19: 13: 1719—1723.
De Vos M., Hayward B.E., Picton S. et al. Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. Am J Hum Genet 2004; 74: 5: 954—964.
Fearnhead N.S., Britton M.P., Bodmer W.F. The ABC of APC. Hum Mol Genet 2001; 10: 7: 721—723.
Giunti L., Cetica V., Ricci U. et al. Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. Eur J Hum Genet 2009; 17: 7: 919—927.
Hamilton S.R., Liu B., Parsons R.E. et al. The molecular basis of Turcot’s syndrome. N Engl J Med 1995; 332: 13: 839—847.
Hegde M.R., Chong B., Blazo M.E., Chintagumpala M.M., Kim J.Y., Plon S.E., Richards C.S. et al. A homozygous mutation in MSH6 causes Turcot syndrome. Clin Cancer Res 2005; 11: 13: 4689—4693.
Itoh H., Ohsato K., Yao T. et al. Turcot’s syndrome and its mode of inheritance. Gut 1979; 20: 5: 414—419.
Kikuchi T., Rempel S.A., Rutz H.P. et al. Turcot’s syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene. Cancer Res 1993; 53: 5: 957—961.
Koontz N.A., Hess C.P. AJR teaching file: brain tumor in a patient with familial adenomatous polyposis. Am J Roentgenol 2010; 195: 3: Suppl: S25—S28.
McLaughlin M.R., Gollin S.M., Lese C.M., Albright A.L. Medulloblastoma and glioblastoma multiforme in a patient with Turcot syndrome: a case report. Surg Neurol 1998; 49: 3: 295—301.
Miyaki M., Nishio J., Konishi M. et al. Drastic genetic instability of tumors and normal tissues in Turcot syndrome. Oncogene 1997; 15: 23: 2877—2881.
Neri E., Faggioni L., Cini L., Bartolozzi C. Colonic polyps: inheritance, susceptibility, risk evaluation, and diagnostic management. Cancer Manag Res 2010; 3: 17—24.
Lindor N.M., Greene M.H., Mayo Familial Cancer Program SPECIAL ARTICLE The Concise Handbook of Family Cancer Syndromes. J Nat Cancer Instit 1998; 90: 14.
Pakakasama S., Tomlinson G.E. Genetic predisposition and screening in pediatric cancer. Pediatr Clin North Am 2002; 49: 6: 1393—1413.
Paraf F., Jothy S., Van Meir E.G. Brain tumor-polyposis syndrome: two genetic diseases? J Clin Oncol 1997; 15: 7: 2744—2758.
Perry A. Familial Tumor Syndroms in Practical Surgical Neuropathology: a diagnostic approach. Churchill Livingstone 2010; 20: 427—453.
Riggins G. The Genetic origins of brain tumors inYoumans Neurological Surgery. 6-th ed. Capter 2011;102: 1133—1140.
Rutz H.P., Kikuchi T. The APC gene in Turcot’s syndrome. N Engl J Med 1995; 333: 8:524.
Turcot J., Després J.P., St.-Pierre F. Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum 1959; 2: 5: 465—468.
Yan H., Giardiello F. Brain tumor-polyposis (BTP) syndrome in Russell and Rubinstein’s patology of tumors of the nervous system. Hodder Arnold 2006; 65b: 1003—1010.

Close metadata