Glioblastoma mimicking metastatic small cell carcinoma: A case report with ultrastructural findings

Maekawa, Kazunari; Tokumitsu, Takako; Noguchi, Hiroshi; Nakamura, Eriko; Gi, Toshihiro; Horinouchi, Shoichi; Yamashita, Shinji; Takeshima, Hideo; Asada, Yujiro; Sato, Yuichiro

doi:10.1002/dc.24715

Cited by 3 publications

(2 citation statements)

References 17 publications

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“…Goodwin and colleagues reviewed 28 cases of GBM metastases to the vertebra, with a mean age at presentation of 38.4 years and an average overall survival of 26 months, of which seven patients received surgery for vertebral metastases (34). After a systematic search on Medline, Embase, and Google Scholar, we retrieved 25 cases of GBM-PNC with extracranial metastases from 14 reports (Table 2) (7,16,17,22,(35)(36)(37)(38)(39)(40)(41)(42)(43)(44). CSF dissemination occurred in 88% (22/25) of the patients, whereas only 4 patients (16%) suffered bone metastases.…”

Section: Discussionmentioning

confidence: 99%

A Rare Manifestation of a Presumed Non-Osteophilic Brain Neoplasm: Extensive Axial Skeletal Metastases From Glioblastoma With Primitive Neuronal Components

et al. 2021

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BackgroundGlioblastoma multiforme (GBM) is the most common malignant tumor of the central nervous system. GBM with primitive neuronal component (GBM-PNC) is an aggressive variant identified in 0.5% of GBMs. Extracranial metastasis from GBM-PNC is a rare and challenging situation.MethodsA special case of early-onset GBM with systemic bone metastasis was enrolled. Clinical data, including patient characteristics, disease course, and serial radiological images were retrieved and analyzed. Tumor tissues were obtained by surgical resections and were made into formalin-fixed paraffin-embedded sections. Histopathological examinations and genetic testing were performed for both the primary and metastatic tumor specimens.ResultsA 20-year-old man suffered from GBM with acute intratumoral hemorrhage of the left temporal lobe. He was treated by gross total resection and chemoradiotherapy following the Stupp protocol. Seven months later, he returned with a five-week history of progressive neck pain and unsteady gait. The radiographic examinations identified vertebral collapse at C4 and C6. Similar osteolytic lesions were also observed at the thoracolumbar spine, pelvic, and left femur. Anterior spondylectomy of C4 and C6 was performed. The resected vertebral bodies were infiltrated with greyish, soft, and ill-defined tumor tissue. One month later, he developed mechanical low-back pain and paraplegia caused by thoracolumbar metastases. Another spine surgery was performed, including T10 total en-bloc spondylectomy, T7-9, L2-3, and L5-S1 laminectomy. After the operation, the patient’s neurological function and spinal stability remained stable. However, he finally succumbed to the rapidly increased tumor burden and died 15 months from onset because of cachexia and multiple organ failure. In addition to typical GBM morphology, the histological examinations identified monomorphic small-round cells with positive immunohistochemical staining of synaptophysin and CD99, indicating the coexistence of PNC. The next-generation sequencing detected pathogenic mutations in TP53 and DNMT3A. Based on above findings, a confirmed diagnosis of systemic metastases from GBM-PNC (IDH-wild type, WHO grade IV) was made.ConclusionsThe present case highlights the occurrence and severity of extensive axial skeletal metastases from GBM-PNC. This rare variant of GBM requires aggressive multimodal treatment including surgery and chemoradiotherapy targeting PNC. The pathological screening of PNC is recommended in patients with early-onset GBM and intratumoral hemorrhage. Surgery for spinal metastasis is appropriate in patients with chemoradioresistance and relatively good general status, with the objectives of restoring spinal stability and relieving spinal cord compression.

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Section: Discussionmentioning

confidence: 99%

A Rare Manifestation of a Presumed Non-Osteophilic Brain Neoplasm: Extensive Axial Skeletal Metastases From Glioblastoma With Primitive Neuronal Components

et al. 2021

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“…[4][5][6][7][8]13 This designation should be reserved for tumours showing extensive mesenchymal differentiation. 1 They are usually firm and well-circumscribed, and can also be mistaken for metastases or [4][5][6][7][8]14,15 Some IDH-wildtype glioblastomas feature a predominance of monomorphic small cells with round to slightly elongated hyperchromatic nuclei, minimal cytoplasm, and brisk mitotic activity. 1 Because of their morphology, these tumours resemble grade 3 oligodendrogliomas or metastatic small cell carcinomas (Figure 4F).…”

Section: Cytology and Differential Diagnosismentioning

confidence: 99%

Cytological features of diffuse and circumscribed gliomas

Esteban‐Rodríguez,

López‐Muñoz,

Blasco‐Santana

et al. 2023

Cytopathology

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The current World Health Organization classification of gliomas is based on morphological, genetic, and molecular parameters. In this review, we intend to present the most relevant cytological features of these tumours, with a particular focus on their analysis during intraoperative studies. Rapid diagnosis is required in this context, and at present it is not possible to evaluate the genetic or molecular profile of a tumour intraoperatively. New terminology and diagnostic parameters have been introduced, but the essence of intraoperative recognition remains the same. The main challenge in astrocytoma IDH‐mutant, grade 2 is recognising the tissue as neoplastic. Since glioma grades 3 and 4 are assigned based on histological and genetic variables that are not necessarily measurable on cytology, the term high‐grade glioma is often used for intraoperative diagnosis. Oligodendroglioma, IDH‐mutant and 1p/19q‐codeleted shows peculiar cytological findings as well as the common subtypes of glioblastoma IDH‐wildtype (giant cell, epithelioid, gliosarcoma and small cell). Many of the paediatric‐type‐diffuse gliomas have been described very recently and there are no cytological reports of proven cases. Finally, pilocytic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, chordoid glioma, and astroblastoma MN1‐altered constitute the group of circumscribed astrocytic gliomas. They are remarkable entities that the pathologist must be able to recognise since most are low‐grade neoplasms that can show atypical morphological features.

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Glioblastoma with a primitive neuronal component: A case report

Liu

Sun

et al. 2023

Oncol Lett

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The present study describes a rare case of glioblastoma with a primitive neuronal component (GBM-PNC), and provides an in-depth analysis of the clinical, pathological and differential diagnostic findings. A comprehensive literature review was conducted to enhance the understanding of GBM-PNC, revealing its distinct characteristics and prognostic implications. A 57-year-old woman presented with acute onset headache, nausea and vomiting, leading to the identification of an intracranial mass through magnetic resonance imaging. Surgical resection revealed the coexistence of a glial component and a PNC within the tumor. Immunohistochemical analysis detected the expression of glial fibrillary acidic protein in the glial component and synaptin in the PNC. The pathological diagnosis confirmed the presence of GBM-PNC. Gene detection analysis revealed no mutations in isocitrate dehydrogenase (IDH)1 and IDH2, and neurotrophic tyrosine kinase receptor-1 (NTRK1), NTRK2 and NTRK3 genes. GBM-PNC is characterized by a propensity for recurrence and metastasis, with a low 5-year survival rate. The present case report highlights the importance of accurate diagnosis and comprehensive characterization of GBM-PNC to guide treatment decisions and improve patient outcomes.

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Glioblastoma mimicking metastatic small cell carcinoma: A case report with ultrastructural findings

Cited by 3 publications

References 17 publications

A Rare Manifestation of a Presumed Non-Osteophilic Brain Neoplasm: Extensive Axial Skeletal Metastases From Glioblastoma With Primitive Neuronal Components

A Rare Manifestation of a Presumed Non-Osteophilic Brain Neoplasm: Extensive Axial Skeletal Metastases From Glioblastoma With Primitive Neuronal Components

Cytological features of diffuse and circumscribed gliomas

Glioblastoma with a primitive neuronal component: A case report

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