Genomic characterization of an esthesioneuroblastoma with spinal metastases: illustrative case.
Document Type
Article
Publication Date
12-4-2023
Original Citation
Marin B,
Leclair N,
Shen E,
Buehler A,
Hegde U,
Wu Q,
Becker K,
Li L,
Brown S,
Wolansky L,
Onyiuke H,
Choi D,
Bulsara K.
Genomic characterization of an esthesioneuroblastoma with spinal metastases: illustrative case. J Neurosurg Case Lessons. 2023;6(23):CASE23164.
Keywords
JGM
JAX Source
J Neurosurg Case Lessons. 2023;6(23):CASE23164.
ISSN
2694-1902
PMID
38048560
DOI
https://doi.org/10.3171/case23164
Abstract
BACKGROUND: Esthesioneuroblastoma (ENB) is a rare neoplasm of the sinonasal tract. Currently, the optimal treatment includes maximal resection combined with radiotherapy and/or chemotherapy. Although ENBs often recur and have an aggressive clinical course, spinal metastases are extremely rare and the underlying molecular mechanisms are poorly understood.
OBSERVATIONS: Here, the authors describe a 50-year-old male with an aggressive ENB, initially treated with resection and chemotherapy/radiation, who developed multiple thoracic and lumbar spinal metastases. The authors performed targeted exome sequencing on both the resected primary tumor and biopsied spinal metastases, which revealed 12 total variants of unknown clinical significance in genes associated with the PI3K/AKT/mTOR pathway, chromatin remodeling, DNA repair, and cell proliferation. Six of these variants were restricted to the metastatic lesion and included missense mutations with predicted functional effects in GRM3, DNMT3B, PLCG2, and SPEN.
LESSONS: This report discusses the potential impact of these variants on tumor progression and metastasis, as well as the implications for identifying potential new biomarkers and therapies.