Rare Cases of IDH1 Mutations in Spinal Cord Astrocytomas

Konovalov, Nikolay; Asyutin, D S; Shayhaev, E. G.; Kaprovoy, Stanislav; Тimonin, S Yu

doi:10.32607/actanaturae.10915

Cited by 4 publications

(6 citation statements)

References 12 publications

(16 reference statements)

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“…Even though IDH-mutant spinal gliomas are very rare, several spinal gliomas with variants other than IDH1 R132H have been reported, and IDH1 R132H mutations are probably not so prevalent in spinal gliomas. Konovalov et al [ 48 ] reported 5 cases of spinal cord astrocytomas with IDH mutations: 2 had IDH1 R132H mutations, while 1 had an IDH1 R132G mutation. In addition, the remaining 2 cases had translocations at positions 82 (Arg → Lys, R82K) and 76 (Ile → Thr, I76T) of the IDH1 gene, which had never been described in intracranial gliomas in the past.…”

Section: The Clinical Features and Genetic Findings Of Intramedullary...mentioning

confidence: 99%

Recent Molecular and Genetic Findings in Intramedullary Spinal Cord Tumors

et al. 2022

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The study of genetic alterations and molecular biology in central nervous system (CNS) tumors has improved the accuracy of estimations of patient prognosis and tumor categorization. Therefore, the updated 2021 World Health Organization (WHO) classification includes various diagnostic genes, molecules, and pathways for diagnosis, as well as histological findings. These findings are expected both to have diagnostic applications and to facilitate new targeted therapies that target tumor-specific genetic changes and molecular biology. Intramedullary spinal cord tumors (IMSCTs) are rare CNS tumors that are difficult to treat because they occur in eloquent areas. Although the genetic underpinnings of IMSCTs remain unclear compared to their intracranial counterparts, the genetic characteristics of these tumors are gradually being revealed. Here, we describe the major changes in the new 2021 WHO classification and review the major types of IMSCTs, with an emphasis on their clinical features and genetic alterations.

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Section: The Clinical Features and Genetic Findings Of Intramedullary...mentioning

confidence: 99%

Recent Molecular and Genetic Findings in Intramedullary Spinal Cord Tumors

et al. 2022

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“…Mutations in the isocitrate dehydrogenase ( IDH ) gene are common in intracranial Grades 2 and 3 astrocytomas; however, their prevalence is rarer in intramedullary astrocytomas ( 115 ). IDH1 and IDH2 are enzymes responsible for conversion of isocitrate in the citric acid cycle, and mutations result in accumulation of R-2-hydroxyglutarate ( 116 ).…”

Section: Molecular Landscapementioning

confidence: 99%

“…This metabolite competitively inhibits histone demethylases, resulting in broad epigenetic changes to DNA methylation and gene expression ( 83 ). IDH mutations can be used intracranially as both a diagnostic marker to distinguish diffuse from pilocytic astrocytomas, given its rare incidence in pilocytic astrocytomas, and as a prognostic marker, with IDH-mutant tumors having a more favorable prognosis compared to wild-type tumors ( 115 , 117 ).…”

Section: Molecular Landscapementioning

confidence: 99%

“…using next generation sequencing, noting that rare and unique variants were identified that are not conventionally tested using immunohistochemistry. Therefore, the true prevalence of IDH1 mutations in spinal cord astrocytomas may be greater than reported, as only the dominant intracranial R132H variant is generally tested using immunohistochemistry ( 115 ). Similarly, Takai et al.…”

Section: Molecular Landscapementioning

confidence: 99%

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Surgical approaches to intramedullary spinal cord astrocytomas in the age of genomics

2022

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Intramedullary astrocytomas represent approximately 30%–40% of all intramedullary tumors and are the most common intramedullary tumor in children. Surgical resection is considered the mainstay of treatment in symptomatic patients with neurological deficits. Gross total resection (GTR) can be difficult to achieve as astrocytomas frequently present as diffuse lesions that infiltrate the cord. Therefore, GTR carries a substantial risk of new post-operative deficits. Consequently, subtotal resection and biopsy are often the only surgical options attempted. A midline or paramedian sulcal myelotomy is frequently used for surgical resection, although a dorsal root entry zone myelotomy can be used for lateral tumors. Intra-operative neuromonitoring using D-wave integrity, somatosensory, and motor evoked potentials is critical to facilitating a safe resection. Adjuvant radiation and chemotherapy, such as temozolomide, are often administered for high-grade recurrent or progressive lesions; however, consensus is lacking on their efficacy. Biopsied tumors can be analyzed for molecular markers that inform clinicians about the tumor’s prognosis and response to conventional as well as targeted therapeutic treatments. Stratification of intramedullary tumors is increasingly based on molecular features and mutational status. The landscape of genetic and epigenetic mutations in intramedullary astrocytomas is not equivalent to their intracranial counterparts, with important difference in frequency and type of mutations. Therefore, dedicated attention is needed to cohorts of patients with intramedullary tumors. Targeted therapeutic agents can be designed and administered to patients based on their mutational status, which may be used in coordination with traditional surgical resection to improve overall survival and functional status.

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“…Although several cases of spinal IDH -mutant astrocytomas and spinal oligodendrogliomas have been reported, they are extremely rare [ 27 , 28 ]. Hemispheric gliomas, such as diffuse hemispheric glioma, H3 G34-mutant, and infant-type hemispheric glioma, are also extremely rare.…”

Section: Diffuse Astrocytic Tumors Including Adult-type Diffuse Gliom...mentioning

confidence: 99%

Pathological Classification of the Intramedullary Spinal Cord Tumors According to 2021 World Health Organization Classification of Central Nervous System Tumors, a Single-Institute Experience

et al. 2022

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According to the new 2021 World Health Organization (WHO) classification of tumors of the central nervous system (CNS) the classification of the primary intramedullary spinal cord tumors (IM-SCT) follows that of CNS tumors. However, since the genetics and methylation profile of ependymal tumors depend on the location of the tumor, the ‘spinal (SP)’ should be added for the ependymoma (EPN) and subependymoma (SubEPN). For an evidence-based review, the authors reviewed SCTs in the archives of the Seoul National University Hospital over the past decade. The frequent pathologies of primary IM-SCT were SP-EPN (45.1%), hemangioblastoma (20.0%), astrocytic tumors (17.4%, including pilocytic astrocytoma [4.6%] and diffuse midline glioma, H3 K27-altered [4.0%]), myxopapillary EPN (11.0%), and SP-subEPN (3.0%) in decreasing order. IDH-mutant astrocytomas, oligodendrogliomas, glioneuronal tumors, embryonal tumors, and germ cell tumors can occur but are extremely rare in the spinal cord. Genetic studies should support for the primary IM-SCT classification. In the 2021 WHO classifications, extramedullary SCT did not change significantly but contained several new genetically defined types of mesenchymal tumors. This article focused on primary IM-SCT for tumor frequency, age, sex difference, pathological features, and genetic abnormalities, based on a single-institute experience.

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Rare Cases of IDH1 Mutations in Spinal Cord Astrocytomas

Cited by 4 publications

References 12 publications

Recent Molecular and Genetic Findings in Intramedullary Spinal Cord Tumors

Recent Molecular and Genetic Findings in Intramedullary Spinal Cord Tumors

Surgical approaches to intramedullary spinal cord astrocytomas in the age of genomics

Pathological Classification of the Intramedullary Spinal Cord Tumors According to 2021 World Health Organization Classification of Central Nervous System Tumors, a Single-Institute Experience

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