Open AccessClinical and molecular characteristics of WNT medulloblastomas
Author(s) -
Ludmila Papusha,
Л. А. Ясько,
Anastasia Shekhtman,
К. А. Воронин,
А. А. Меришавян,
И. Г. Стороженко,
Ekaterina Salnikova,
И.Д. Бородина,
А. В. Нечеснюк,
Г. В. Терещенко,
Н. А. Струмила,
Artem Zaichikov,
И. М. Юнусова,
Х. Э. Хасмагомадова,
А. А. Румянцев,
M.S. Kubirov,
И. В. Боталова,
Н. В. Микава,
Е. Н. Гришина,
Sergey Gorelyshev,
С. Г. Коваленко,
Alexander Druy,
Galiovichkova,
А. И. Карачунский
Publication year - 2019
Publication title -
voprosy gematologii/onkologii i immunopatologii v pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.108
H-Index - 3
eISSN - 2414-9314
pISSN - 1726-1708
DOI - 10.24287/1726-1708-2019-18-4-11-18
Subject(s) - medicine , sanger sequencing , wnt signaling pathway , hematology , oncology , disease , gene mutation , mutation , gene , biology , genetics
WNTMBaccounts for about 10% of all medulloblastomas and have a favorable outcome in patients under 16 years according international data. We analyzed clinical and molecular characteristics of 20 patients with WNTMBpatients. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. The molecular group verification was performed by Nanostring gene expression profiling. The detection of CTNNB1 and TP53 gene mutations was carried out with Sanger sequencing. WNT Medulloblastoma are mainly classic (18/20 patients), non-metastatic (19/20 patients). Gross total resection was performed in 18 patients. Somatic CTNNB1 mutations were found in 17 patients, somatic TP53 were identified in 2 patients. 19/20 assessable patients are disease-free with a median follow-up of 23 months. One patient died from the progression of the disease. WNT MB patients have an overall favorable outcome, even for metastatic and TP53 positive tumors. The reduction in the intensity of therapy is indicated forWNTMB in case of reliable identification ofWNTMB.