Metastatic rhabdoid meningioma with BRAF V600E mutation and good response to personalized therapy: case report and review of the literature.

نویسندگان

  • Oz Mordechai
  • Sergey Postovsky
  • Eugene Vlodavsky
  • Ayelet Eran
  • Shlomi Constantini
  • Eynat Dotan
  • Emmanuela Cagnano
  • Myriam Weyl-Ben-Arush
چکیده

Rhabdoid meningioma is an aggressive phenotype of meningioma, associated with a poor prognosis. We present a very rare case of high-grade meningioma with rhabdoid features that eventually expressed in a coma state. Comprehensive genomic profiling using a Next Generation Sequencing (NGS) assay revealed three genomic alterations: activating BRAF mutation (V600E), loss of CDKN2A/2B, and APC I1307K. After treatment with BRAF inhibitor (dabrafenib), the child's clinical condition improved progressively. After seven months, an MEK inhibitor was added (trametinib).

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

بررسی ارزش تشخیصی ردیابی جهشBRAF V600Eدربیماران ایرانی مبتلابه لوسمی سلول مویی

Abstract Background & Aims:BRAF-V600E mutation has recently been considered as a molecular marker in diagnosis of Hairy Cell Leukemia (HCL). Detection of this mutation has found a diagnostic and therapeutic value. The aim of the present study was comparing the diagnostic value of BRAF V600E mutation detection with other previous methods in diagnosis of HCL patients. Materials & M...

متن کامل

AN UNUSUAL PRESENTATION OF EXTRARENAL MALIGNANT RHABDOID TUMOR OF SOFT TISSUE: A CASE REPORT AND REVIEW OF THE LITERATURE

Extra renal extra cranial malignant rhobdoid tumors (MRT) are rare, frequently lethal and affect mostly children. No definite treatment has been made and the role of radiation therapy is poorly defined. This report explains a 14 year old girl with MRT in her neck soft tissue. She is alive with no evidence of disease 18 months after diagnosis. Through the experience with this case, we suggested...

متن کامل

Evaluation of BRAF-V600E gene mutation in colon tissue of patients with colorectal cancer in Iran

Background: Colorectal cancer is one of the most common types of cancer and the cause of death of a large number of patients and requires investigating the causes of the disease and adopting targeted therapies. Considering the diagnostic, therapeutic, and prognostic significance of genetic markers, in the present study BRAF-V600E gene mutation was evaluated in tissue samples of colorectal cance...

متن کامل

Immunohistochemical Investigation of Mutant BRAF V600E in Common Pigmented Skin Neoplasms, Study on a Sample of Iranian Patients

Background & Objective: This study was designed for the first time for the detection of mutant BRAF V600E and its correlation with clinicophathologic features in a sample of Iranian patients with pathologically proved pigmented skin neoplasms.Methods: 82 paraffin-embedded blocks, including melanocytic nevi, malignant melanoma, Basel cell carcinoma, and sq...

متن کامل

Molecular Status of BRAF Mutation in Prostate Adenocarcinoma: The Analysis of 100 Cases in North-East of IRAN

Background and Objective: BRAF mutations were studied in various populations for prostate carcinoma (PC); however, mutations in BRAF gene are unusual compared to KRAS. Oncogenic activating of BRAF mutations were studied lately in almost 0%-10% of prostate cancer cases. Methods: In this retrospective study, we gathered 100 formalin-fixed ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Pediatric hematology and oncology

دوره 32 3  شماره 

صفحات  -

تاریخ انتشار 2015