JoVE - Journal of Visualized Experiments
JoVE Visualize
Contact Us

Recurrent TRAF7-mutated meningioma: Molecular evolution and therapeutic insights

  • 0West Virginia University School of Medicine, Morgantown, WV, USA.
Sage Open Medical Case Reports +

|

August 5, 2025

|

August 5, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

Recurrent meningiomas with TRAF7 mutations can progress in grade. Immunotherapy, like pembrolizumab, may be effective in mismatch repair deficient cases, highlighting the need for targeted clinical trials.

Area Of Science

  • Neuro-oncology
  • Molecular Pathology

Background

  • Meningiomas are common primary brain tumors.
  • TRAF7 mutations occur in ~25% of meningiomas, activating the NFκB pathway.
  • TRAF7 mutations are linked to higher recurrence rates in low-grade meningiomas.

Observation

  • A case of a 49-year-old woman with recurrent World Health Organization (WHO) Grade 2 chordoid meningioma is presented.
  • The tumor initially diagnosed as WHO Grade 1 progressed over six years.
  • Molecular profiling revealed a TRAF7 exon 20 (p.R653Q) mutation and PMS2 deletion.

Findings

  • The patient underwent multiple treatments including surgery, radiation, lanreotide, bevacizumab, and pembrolizumab.
  • Pembrolizumab demonstrated a favorable response, attributed to the tumor's mismatch repair deficiency.
  • This case illustrates the molecular and histological evolution of TRAF7-mutated meningiomas.

Implications

  • The findings suggest potential efficacy of immunotherapy for recurrent TRAF7-mutated meningiomas with mismatch repair deficiency.
  • The lack of targeted therapies for TRAF7-positive meningiomas emphasizes the necessity for mutation-specific clinical trials.
  • Understanding tumor evolution is crucial for managing recurrent meningiomas.

Keywords:

Related Concept Videos

Treatment Resistant Cancers 02:56

3.4K

Cancer is the second leading cause of death in the United States. A cancer cell is genetically unstable and hence can mutate faster. They can also modify their microenvironment and escape immune surveillance. The difficulties in treating cancer are further compounded by the emergence of rapid resistance to anticancer drugs. The most common ways to attain resistance in cancer cells include alteration in drug transport and metabolism, modification of drug target, elevated DNA damage response, or...

Mismatch Repair 01:20

5.2K

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

Targeted Cancer Therapies 02:57

7.8K

The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...