The rare case of a combination two brain tumors with total colon polyposis

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  • Authors: Salnikova E.A.1, Ozerov S.S.1, Zakharov I.V.1, Abramov D.S.1, Kazakova A.N.1, Tikhonova M.V.1, Pospekhova N.I.2, Novichkova G.A.1, Litvinov D.V.1, Borodina I.D.1, Kumirova E.V.1
  • Affiliations:
    1. Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation
    2. State research center of coloproctology named after A. N. Ryzhikh, Ministry of Health of the Russian
  • Issue: Vol 6, No 4 (2015)
  • Pages: 124-134
  • Section: Articles
  • URL: https://journals.eco-vector.com/pediatr/article/view/1379
  • DOI: https://doi.org/10.17816/PED64124-134
  • Cite item

Abstract


Objectives of publication: Presentation of a rare clinical observation from our own practice. Key points: The combination of brain tumors and colon polyposis often described in the literature as a syndrome Turcot. Turcot's syndrome is a genetic disease with different clinical manifestations. This is a rare syndrome (a little more than 150 cases are described), and therefore, the standardization of approaches to diagnosis and treatment is not currently defined. We present the clinical case of manifestations of the Turcot’s syndrome of our practice. Сlinical observation: Male patients, from birth to the skin marked multiple cafe-au-lait spots. At age 14 years, according to a magnetic resonance imaging multiple brain tumors are revealed, two different histologically tumor brains (one of which is benign (pilocytic astrocytoma), the other is malignant (anaplastic ependymoma)) and total colon adenomatous polyposis were diagnosed. Currently, syndromic pathology is not verified. Receives one of polychemotherapy protocols for treating tumors of the central nervous system. It is planned to conduct additional studies aimed at clarifying the genetic defect, with a view to a possible optimization of the therapy (modification of the plane of polychemotherapy, use of an option of radiation therapy, use of a target therapy). Conclusions: The results of a comprehensive survey of the use of modern techniques of molecular biology and cytogenetics affect the prognosis of the disease and treatment strategy.

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About the authors

Ekaterina Aleksandrovna Salnikova

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation

Email: ea_gerasimova@mail.ru
Junior researcher, Dep. of Neurooncology

Sergey Sergeevich Ozerov

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation

Email: Sergey.Ozerov@fccho-moscow.ru
MD, PhD, Project Leader, Dep. of Neurooncology

Ilya Vladimirovich Zakharov

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation

Email: ilya.zaharov@fccho-moscow.ru
Department of surgery of children and teenagers

Dmitry Sergeevich Abramov

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation

Email: pathmorf@mail.ru
Department of pathological anatomy

Anna Nikolaevna Kazakova

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation

Email: anna.kazakova@fccho-moscow.ru
Department of surgery of children and teenagers.

Marina Valeryevna Tikhonova

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation

Email: marina.tikhonova@fccho-moscow.ru
Department of hematology/oncology for teenagers and young adults

Natalya Ivanovna Pospekhova

State research center of coloproctology named after A. N. Ryzhikh, Ministry of Health of the Russian

Email: npospekhova@mail.ru
PhD Department of laboratory genetics

Galina Anatolyevna Novichkova

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation

Email: Galina.Novichkova@fnkc.ru
MD, PhD, Dr Med Sci, Professor, director, Department of the leading consultants

Dmitry Vitalyevich Litvinov

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation

Email: litvinov_d_v@mail.ru
MD, PhD, Department of hematology/oncology for teenagers and young adults

Irina Dmitrievna Borodina

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation

Email: irina.borodina@fccho-moscow.ru
MD, PhD, Ambulatory department

Ella Vyacheslavovna Kumirova

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev, Ministry of Health of the Russian Federation

Email: ella.kumirova@fccho-moscow.ru
MD, PhD, Dr Med Sci, Department of Neurooncology

References

  1. Качанов Д. Ю., Абдуллаев Р. Т., Шаманская Т. В. и др. Генетические синдромы у детей со злокачественными новообразованиями. Гемобластозы: диагностика, лечение, сопроводительная терапия. М.: 2010; 3: 29-35.
  2. Корнилов А. В., Правосудов И. В. Наследственный неполипозный рак толстой кишки: современное состояние проблемы. Онкологическая колопроктология. М.: 2011; 3: 7-11.
  3. 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 Aug; 100 (8): 1886-91.
  4. Al-Sukhni W., Aronson M., Gallinger S. Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome. Surg Clin North Am. 2008; 88 (4): 819-44.
  5. 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): 655-65.
  6. 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): 2081-7.
  7. Crail H. Multiple primary malignancies arising in the rectum, brain, and thyroid; report of a case. US Nav Med Bull. 1949 Jan-Feb; 49 (1): 123-8.
  8. 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 Mar 23; 19 (13): 1719-23.
  9. 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 May; 74 (5): 954-64.
  10. Fearnhead N. S., Britton M. P., Bodmer W. F. The ABC of APC. Hum Mol Genet. 2001 Apr; 10 (7): 721-3.
  11. 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 Jul; 17 (7): 919-27.
  12. Hamilton S. R., Liu B., Parsons R. E. et al. The molecular basis of Turcot's syndrome. N Engl J Med. 1995 Mar 30; 332 (13): 839-47.
  13. Hegde M. R., Chong B., Blazo M. E., Chin L. H., Ward P. A., Chintagumpala M. M., Kim J. Y., Plon S. E., Richards C. S. A homozygous mutation in MSH6 causes Turcot syndrome. Clin Cancer Res. 2005 Jul 1;11 (13): 4689-93.
  14. Itoh H., Ohsato K., Yao T. et al. Turcot's syndrome and its mode of inheritance. Gut. 1979 May; 20 (5): 414-9.
  15. 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 Mar 1; 53 (5): 957-61.
  16. Koontz N. A., Hess C. P. AJR teaching file: brain tumor in a patient with familial adenomatous polyposis. AJR Am J Roentgenol. 2010 Sep; 195 (3 Suppl): S25-8.
  17. 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 Mar; 49 (3): 295-301.
  18. Miyaki M., Nishio J., Konishi M. et al. Drastic genetic instability of tumors and normal tissues in Turcot syndrome. Oncogene. 1997 Dec 4; 15 (23): 2877-81.
  19. Neri E., Faggioni L., Cini L., Bartolozzi C. Colonic polyps: inheritance, susceptibility, risk evaluation, and diagnostic management. Cancer Manag Res. 2010 Dec 30; 3: 17-24.
  20. Nishisho I., Nakamura Y., Miyoshi Y., Miki Y., Ando H., Horii A., Koyama K., Utsunomiya J., Baba S., Hedge P., Markham A., Krush A. J., Petersen G., Hamilton S. R., Nilbert M. C., Levy D. B., Bryan T. M., Preisinger A. C., Smith K. J., Su L-K, Kinzler K. W., Vogelstein B. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991 Aug 9; 253 (5020): 665-9.
  21. Noralane M. Lindor, Mark H. Greene, and the Mayo Familial Cancer Program SPECIAL ARTICLE The Concise Handbook of Family Cancer Syndromes Journal of the National Cancer Institute. 1998; 90 (14, July 15).
  22. Pakakasama S., Tomlinson G. E. Genetic predisposition and screening in pediatric cancer. Pediatr Clin North Am. 2002; 49 (6): 1393-413.
  23. Paraf F., Jothy S., Van Meir E. G. Brain tumor-polyposis syndrome: two genetic diseases? J Clin Oncol. 1997 Jul; 15 (7): 2744-58.
  24. Perry A. Familial Tumor Syndroms in Practical Surgical Neuropathology: a diagnostic approach. Churchill Livingstone 2010; 20: 427-53.
  25. Rustgi A. K. The genetics of hereditary colon cancer. Genes Dev. 2007 Oct 15; 21 (20): 2525-38.
  26. Rutz H. P, Kikuchi T. The APC gene in Turcot's syndrome. N Engl J Med. 1995 Aug 24; 333 (8): 524
  27. Slupska M. M., Baikalov C., Luther W. M., Chiang J.-H., Wei Y.-F., Miller J. H. Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage. J Bacteriol. 1996 Jul; 178 (13): 3885-92.
  28. Turcot J., Despres 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 Sep-Oct;2: 465-8.

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Copyright (c) 2015 Salnikova E.A., Ozerov S.S., Zakharov I.V., Abramov D.S., Kazakova A.N., Tikhonova M.V., Pospekhova N.I., Novichkova G.A., Litvinov D.V., Borodina I.D., Kumirova E.V.

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