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Case Reports
. 2022 Aug;11(8):2917-2925.
doi: 10.21037/tcr-22-955.

Extracranial metastasis of glioblastoma with genomic analysis: a case report and review of the literature

Mei Chai  1 , Qingming Shi  1
Affiliations
Case Reports

Extracranial metastasis of glioblastoma with genomic analysis: a case report and review of the literature

Mei Chai et al. Transl Cancer Res. 2022 Aug.

Abstract

Background: Glioblastoma (GBM) is the first most frequent type of primary malignant brain tumors in adults. It is basically confined to the brain, and extracranial metastases (ECM) are rare. The genomic features of GBM with ECM are not fully elucidated.

Case description: Here, we present a case of a male patient with headache and left eye vision loss for 2 months who had a left occipital lobe tumor. GBM of grade IV [isocitrate dehydrogenase 1 (IDH-1) wild type] was diagnosed based on the histological profiles of intracranial tumor according to the World Health Organization standard. ECM of GBM located in the mediastinal lymph node occurred 6 months after resection of the intracranial tumor. High throughput gene sequencing was performed using ECM lesions. Mutated genes included tumor protein 53 (TP53), CUB and Sushi multiple domains 3 (CSMD3), poly(ADP-ribose) polymerase family member 4 (PARP4), and PTEN. The patient underwent surgery, radiotherapy, chemotherapy, and anti-angiogenic drug treatment. Unfortunately, the patient died 8 months after surgery.

Conclusions: ECM of GBM is rare, and its prognosis is very poor. Mutated genes in ECM included TP53, CSMD3, PARP4, and PTEN in our case. Genomic analysis provides important insights into GBM and its ECM.

Keywords: Glioblastoma (GBM); case report; extracranial metastases (ECM); gene sequencing.

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Conflict of interest statement

Conflicts of Interest: Both authors have completed the ICMJE uniform disclosure form (available at https://tcr.amegroups.com/article/view/10.21037/tcr-22-955/coif). The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Cranial CT images before and after surgery. (A) Preoperative cranial CT showing a large tumor in left occipital lobe (yellow arrow). Peritumoral edema was obvious. (B) Cranial CT on the first day after surgery showing successful tumor resection (green arrow). CT, computed tomography.
Figure 2
Figure 2
Serial chest CT images during the treatment. (A) No obvious abnormality on chest CT images before intracranial surgery. (B) Extracranial metastasis with bilateral pleural effusion and mediastinal lymph node enlargement 6 months after intracranial surgery. (C) Enhanced chest CT images 7 months after intracranial surgery showing mediastinal mass significantly larger than before (yellow arrow). CT, computed tomography.
Figure 3
Figure 3
Pathology of glioblastoma. (A) Brain tissue: GFAP (+), olig-2 (+), P53 (+), NeuN (−), IDH-1 (−), CD34 (−), ATRX (+), and Ki-67 (40%). Tumor cells grew intensively and diffusely, blood vessels proliferated obviously in the stromal. A large area of necrosis was found focally, and the tumor cells arranged in palisade shape around the necrosis (B) mediastinal lymph nodes: GFAP (+), S-10 (+), P53 (+), Syn (+), Ki-67 (30%), CK (−), CD34 (−), P63 (−). Nest-like heterotypic cells distributed in the proliferative lymphoid tissue. Hematoxylin-eosin staining; A, ×10, B, ×200.
Figure 4
Figure 4
Cranial magnetic resonance imaging showing recurrence of glioblastoma. Recurrence of tumor in left occipitotemporal lobe 6 months after intracranial surgery (yellow arrow).
Figure 5
Figure 5
Timeline of the patient’s treatment. GBM, glioblastoma.
See this image and copyright information in PMC

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