A sporadic pediatric case of a spinal dumbbell-shaped epithelioid malignant peripheral nerve sheath tumor with a novel germline mutation in SMARCB1: a case report and review of the literature

Front. Neurol., 2023 · DOI: 10.3389/fneur.2023.1178651 · Published: May 25, 2023

Simple Explanation

This report describes a rare spinal tumor in a young boy. It's a type of cancer that affects the nerves, called an epithelioid malignant peripheral nerve sheath tumor (EMPNST). The tumor had a unique dumbbell shape. The tumor was linked to a new genetic change in the SMARCB1 gene. This gene is important for preventing tumor growth. The boy inherited this gene change from his father. Doctors removed the tumor with surgery, and the boy received chemotherapy and radiation. After a year, there was no sign of the tumor returning.

Study Duration

1 year follow-up

Participants

One 3-year-old boy

Evidence Level

Case Report and Literature Review

Key Findings

1
The patient had a novel germline mutation in the SMARCB1 gene, inherited from his father, suggesting a “second-hit loss”.
2
Radical resection appears more effective in inhibiting distant metastasis and improving prognosis for spinal dumbbell MPNSTs.
3
Immunohistochemistry revealed the complete absence of the SMARCB1/INI-1 protein in the tumor cells.

Research Summary

This case report presents a rare instance of a 3-year-old boy with a lumbosacral dumbbell-shaped epithelioid MPNST, highlighting its uncommon manifestation and genetic underpinnings. Genetic testing identified a novel germline mutation in the SMARCB1/INI-1 gene, inherited from the patient's father, which contributes to a better understanding of the tumor's development. Radical tumor resection, followed by chemotherapy and radiation, resulted in no suspected metastasis after one year, supporting the potential effectiveness of this treatment approach.

Practical Implications

Genetic Counseling

The identification of a novel germline SMARCB1 mutation emphasizes the importance of genetic counseling and testing for families with a history of MPNST or related tumors.

Surgical Approach

The finding that radical resection is more effective suggests that aggressive surgical removal of spinal dumbbell MPNSTs should be considered when feasible.

Personalized Therapy

Further research into the specific genetic mechanisms driving EMPNSTs, including the role of SMARCB1, could lead to the development of targeted therapies for these tumors.

Study Limitations

1
The study is limited to a single case report, which restricts the generalizability of the findings.
2
The follow-up period of one year may be insufficient to fully assess the long-term outcome and risk of recurrence.
3
The literature review included a small number of cases, limiting the statistical power of any conclusions drawn.

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