Successful treatment of a patient with Turcot syndrome
- Authors: Aliev V.A.1, Mamedli Z.Z.1, Ovchinnikova A.I.1, Rakhimov O.A.1, Lyubchenko L.N.1, Ayrapetyan T.S.1
-
Affiliations:
- N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia
- Issue: Vol 8, No 3 (2018)
- Pages: 46-50
- Section: CASE REPORT
- Published: 03.11.2018
- URL: https://onco-surgery.info/jour/article/view/260
- DOI: https://doi.org/10.17650/2220-3478-2018-8-3-46-50
- ID: 260
Cite item
Full Text
Abstract
We report a case of successful treatment of a 15-year-old female patient (body mass index 16) diagnosed with Turcot syndrome (familial adenomatous polyposis of the colon) combined with multiple primary malignant tumors, including anaplastic astrocytoma (received combination therapy in 2007), metachronous cecal cancer (underwent subtotal colectomy and 12 courses of polychemotherapy in 2016–2017), and metachronous stage III pT3N1M0 rectal cancer at 8 cm. The patient underwent laparoscopic low resection with extirpation of the ileosigmoid anastomosis, creation of a reservoir-rectal anastomosis, and preventive ileostomy. The patient had minimal intraoperative blood loss and uneventful postoperative period (with an accelerated rehabilitation protocol). She was discharged from a hospital on day 9. Considering previous treatment episodes and the disease stage, we also included into the treatment regimen adjuvant FOLFOX polychemotherapy in a reduced dose for 6 months. During one-year follow up, there was no evidence of disease progression. Later, the patient underwent ileostomy closure with forming a side-to-side mechanical anastomosis. The patient is fully rehabilitated in term of her social activity.
About the authors
V. A. Aliev
N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia
Author for correspondence.
Email: afandi@inbox.ru
24 Kashirskoe Shosse, Moscow 115478
Russian FederationZ. Z. Mamedli
N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia
Email: fake@neicon.ru
ORCID iD: 0000-0002-9289-1247
24 Kashirskoe Shosse, Moscow 115478
Russian FederationA. I. Ovchinnikova
N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia
Email: fake@neicon.ru
24 Kashirskoe Shosse, Moscow 115478
Russian FederationO. A. Rakhimov
N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia
Email: fake@neicon.ru
24 Kashirskoe Shosse, Moscow 115478
Russian FederationL. N. Lyubchenko
N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia
Email: fake@neicon.ru
24 Kashirskoe Shosse, Moscow 115478
Russian FederationT. S. Ayrapetyan
N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia
Email: fake@neicon.ru
24 Kashirskoe Shosse, Moscow 115478
Russian FederationReferences
- 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):465–68. PMID: 13839882.
- Wimmer K., Kratz C. P . Constitutional mismatch repair-deficiency syndrome. Haematologica 2010;95(5):699–701. PMID: 20442441. doi: 10.3324/haematol.2009.021626.
- Agostini M., Tibiletti M. G., LucciCordisco E. Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. Am J Gastroenterol 2005;100(8):1886–91. PMID: 16144131.
- Lavoine N., Colas C., Muleris M. et al. Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. J Med Genet 2015;52(11):770–8. PMID: 26318770. doi: 10.1136/jmedgenet-2015-103299.
- Vasen H. F., Ghorbanoghli Z., Bourdeaut F. et al. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D). J Med Genet 2014;51(5):283–93. PMID: 24556086. doi: 10.1136/jmedgenet-2013-102238.
- Wimmer K., Kratz C. P., Vasen H. F. et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium “Care for CMMRD” (C4CMMRD). J Med Genet 2014;51(6):355–65. PMID: 24737826. doi: 10.1136/jmedgenet-2014–102284.
- Sarin S., Bernath A. Turcot syndrome. South Med J 2008;101(12):1273–4. PMID: 19005436. doi: 10.1097/SMJ.0b013e3181883853.
- Kachanov D. Yu., Abdullaev R. T., Shamanskaya T. V. et al. Genetic syndromes in children with malig nant tumors. Onkogematologiya = Oncohematology 2010;3:29–35. (In Russ.).
- Paraf F., Jothy S., van Meir E. G. Brain tumor-polyposis syndrome: two genetic diseases? J Clin Oncol 1997;15(7):2744–58. PMID: 9215849. doi: 10.1200/JCO.1997.15.7.2744.
Supplementary files


