Response in a child with a BRAF V600E mutated desmoplastic infantile astrocytoma upon retreatment with vemurafenib

Pediatr Blood Cancer. 2018 Mar;65(3). doi: 10.1002/pbc.26893. Epub 2017 Dec 12.

Abstract

Infants with low-grade glioma (LGG) and diencephalic syndrome have a poor outcome. The patient described here had a desmoplastic infantile astrocytoma harboring a BRAF V600E mutation. After relapse following initial standard chemotherapy treatment, he was successfully treated with the BRAF V600E inhibitor vemurafenib at the age of 3 years 11 months and 5 years 0 months. A rapid response was observed on both occasions. This illustrates the possibility of continuous oncogenic addiction and the therapeutic potential of BRAF V600E inhibitor monotherapy in LGG, even in very young severely compromised children. BRAF V600E inhibition in LGG and possible (re-)treatment regimens are briefly discussed.

Keywords: BRAF V600E inhibitor; child; desmoplastic infantile astrocytoma; infant; low-grade glioma; vemurafenib.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antineoplastic Agents / therapeutic use*
  • Astrocytoma / drug therapy*
  • Astrocytoma / genetics*
  • Brain Neoplasms / drug therapy*
  • Brain Neoplasms / genetics*
  • Carcinoma, Small Cell / drug therapy*
  • Carcinoma, Small Cell / genetics*
  • Child, Preschool
  • Humans
  • Infant
  • Male
  • Mutation
  • Neoplasm Recurrence, Local / drug therapy*
  • Neoplasm Recurrence, Local / genetics
  • Proto-Oncogene Proteins B-raf / genetics*
  • Vemurafenib / therapeutic use*

Substances

  • Antineoplastic Agents
  • Vemurafenib
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf

Supplementary concepts

  • Desmoplastic cerebral astrocytoma of infancy