H3K27M-mutant glioma in thoracic spinal cord and conus medullaris with pilocytic astrocytoma morphology: case report and review of the literature

Flores, Alexis Palpán; Domínguez, Víctor Rodríguez; Rodríguez, Isabel Esteban; Aragón, María Román de; Pérez, Ana Coca

doi:10.1080/02688697.2021.1988054

Cited by 6 publications

(4 citation statements)

References 51 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In contrast, most adult cases of DMG, H3K27-altered, have been reported to be partially enhancing or nonenhancing and do not usually present with edema. 8 , 10 Diffusion-weighted imaging (DWI) is increasingly utilized in the diagnosis of CNS gliomas, as it can offer insight into cell density, and thus histological grade, noninvasively. Significant diffusion restriction in the volume of the lesion was present on ADC, likely indicating a high-grade, poorly differentiated neoplasm.…”

Section: Discussionmentioning

confidence: 99%

“…Currently, there have been fewer than 20 reported cases of spinal cord DMG, H3K27-altered, in adults and only 1 other case localized to the level of the conus medullaris. [5][6][7][8][9] The radiographic features of DMG, H3K27-altered, are highly variable among the few reported cases. Nevertheless, identifying relevant features at presentation can improve prognostication and the choice of treatment.…”

Section: Observationsmentioning

confidence: 99%

See 1 more Smart Citation

Diffuse midline glioma, H3K27-altered, of the conus medullaris presenting as acute urinary retention: illustrative case

Saluja¹,

Razzaq²,

Servider³

et al. 2023

Journal of Neurosurgery: Case Lessons

View full text Add to dashboard Cite

BACKGROUND Diffuse midline glioma (DMG), H3K27-altered, is a rare, highly malignant central nervous system neoplasm that arises in midline structures. They are more commonly encountered in children and are rarely encountered in adults, usually in the thalamus or spinal cord. The presence of the H3K27 mutation in the H3F3A gene automatically classifies a tumor as World Health Organization grade IV. These tumors carry a grim prognosis, with an overall median survival of less than 1 year. OBSERVATIONS The authors report the case of a 38-year-old male presenting with acute-onset urinary retention who was found to have an expansile, well-circumscribed mass involving the conus medullaris at the level of T12–L1. A T12–L1 laminectomy and tumor debulking were performed. Pathology revealed glial cells with astrocytic morphology among Rosenthal fibers, microvascular proliferation, and cellular atypia. The H3K27 mutation was confirmed. LESSONS DMG, H3K27-altered, is a rarely encountered entity that can present in numerous midline structures. If localized to the conus medullaris, it may present as acute-onset urinary retention in a previously asymptomatic patient. Further investigation is needed to characterize its molecular and clinical features in adults to improve the management of those presenting with these tumors.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Observationsmentioning

confidence: 99%

Diffuse midline glioma, H3K27-altered, of the conus medullaris presenting as acute urinary retention: illustrative case

Saluja¹,

Razzaq²,

Servider³

et al. 2023

Journal of Neurosurgery: Case Lessons

View full text Add to dashboard Cite

show abstract

“…H3-K27 mutation previously showed diagnostic relevance and defined phenotypically and molecularly a distinct set of tumors ( 78 ). However, these mutations rarely occur in SIA with just several cases described in the literature ( 79 ).…”

Section: Discussionmentioning

confidence: 99%

Transcriptomic Portraits and Molecular Pathway Activation Features of Adult Spinal Intramedullary Astrocytomas

et al. 2022

View full text Add to dashboard Cite

In this study, we report 31 spinal intramedullary astrocytoma (SIA) RNA sequencing (RNA-seq) profiles for 25 adult patients with documented clinical annotations. To our knowledge, this is the first clinically annotated RNA-seq dataset of spinal astrocytomas derived from the intradural intramedullary compartment. We compared these tumor profiles with the previous healthy central nervous system (CNS) RNA-seq data for spinal cord and brain and identified SIA-specific gene sets and molecular pathways. Our findings suggest a trend for SIA-upregulated pathways governing interactions with the immune cells and downregulated pathways for the neuronal functioning in the context of normal CNS activity. In two patient tumor biosamples, we identified diagnostic KIAA1549-BRAF fusion oncogenes, and we also found 16 new SIA-associated fusion transcripts. In addition, we bioinformatically simulated activities of targeted cancer drugs in SIA samples and predicted that several tyrosine kinase inhibitory drugs and thalidomide analogs could be potentially effective as second-line treatment agents to aid in the prevention of SIA recurrence and progression.

show abstract

“…Additional cases of astrocytomas of the conus medullaris have been described: a case of anaplastic glioma of the conus medullaris with morphological features of PA, 25 and an astrocytoma of the conus in a patient with neurofibromatosis type 1 26 ( Table 1 ). In both cases, these tumors presented with similar symptoms of low back pain and saddle anesthesia; however, both required postoperative adjuvant treatment due to aggressive nature of high-grade lesions.…”

Section: Discussionmentioning

confidence: 99%

Pilocytic Astrocytoma Arising from the Conus Medullaris in an Adult: A Case Report

Leclair

Buehler

et al. 2022

Asian J Neurosurg

View full text Add to dashboard Cite

Low-grade, sporadic, pilocytic astrocytomas (PAs) are rare spinal cord tumors diagnosed in adult patients. Their localization to the conus medullaris is exceedingly rare, having only been described in a limited number of case reports. Here, we describe a case of a 22-year-old female presenting with back pain, lower extremity weakness, hypoesthesia, and urinary incontinence. Imaging studies demonstrated a cystic lesion of the conus medullaris that was treated with subtotal resection and cyst-subarachnoid shunt placement. Final pathology report confirmed PA from the histology of surgical specimens. We discuss the current literature of conus medullaris lesions and their differential diagnosis.

show abstract

H3K27M-mutant glioma in thoracic spinal cord and conus medullaris with pilocytic astrocytoma morphology: case report and review of the literature

Cited by 6 publications

References 51 publications

Diffuse midline glioma, H3K27-altered, of the conus medullaris presenting as acute urinary retention: illustrative case

Diffuse midline glioma, H3K27-altered, of the conus medullaris presenting as acute urinary retention: illustrative case

Transcriptomic Portraits and Molecular Pathway Activation Features of Adult Spinal Intramedullary Astrocytomas

Pilocytic Astrocytoma Arising from the Conus Medullaris in an Adult: A Case Report

Contact Info

Product

Resources

About