Journal of Pathology and Translational Medicine

Review

Molecular Testing of Brain Tumor: Sung-Hye Park, Jaekyung Won, Seong-Ik Kim, Yujin Lee, Chul-Kee Park, Seung-Ki Kim, Seung-Hong Choi; J Pathol Transl Med. 2017;51(3):205-223. Published online May 12, 2017; DOI: https://doi.org/10.4132/jptm.2017.03.08

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The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53, and ATRX, oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC, FUBP1, and the promoter region of telomerase reverse transcriptase (TERTp). IDH-wildtype (primary) glioblastomas typically lack mutations in IDH, but are characterized by copy number variations of EGFR, PTEN, CDKN2A/B, PDGFRA, and NF1 as well as mutations of TERTp. High-grade pediatric gliomas differ from those of adult gliomas, consisting of mutations in H3F3A, ATRX, and DAXX, but not in IDH genes. In contrast, well-circumscribed low-grade neuroepithelial tumors in children, such as pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and ganglioglioma, often have mutations or activating rearrangements in the BRAF, FGFR1, and MYB genes. Other CNS tumors, such as ependymomas, neuronal and glioneuronal tumors, embryonal tumors, meningothelial, and other mesenchymal tumors have important genetic alterations, many of which are diagnostic, prognostic, and predictive markers and therapeutic targets. Therefore, the neuropathological evaluation of brain tumors is increasingly dependent on molecular genetic tests for proper classification, prediction of biological behavior and patient management. Identifying these gene abnormalities requires cost-effective and high-throughput testing, such as next-generation sequencing. Overall, this paper reviews the global guidelines and diagnostic algorithms for molecular genetic testing of brain tumors.

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Original Article

Immunohistochemical Expression of Synaptophysin in Brain Tumors.: Byung Ha Choi, Shin Kwang Khang; Korean J Pathol. 2001;35(5):433-439.

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Abstract PDF: BACKGROUND
Perikaryal or perikaryal surface immunostaining for synaptophysin has been posited to distinguish the neoplastic neuronal elements of gangliogliomas from entrapped non-neoplastic neurons in other gliomas of various types. However, recent studies revealed that perikaryal surface immunoreactivity can be seen in the neurons of normal human spinal cords and brains, as well as in the brain tissues around certain non-neuronal lesions. To access the validity of this criterion in the diagnosis of ganglion cell neoplasms, we evaluated patterns of immunostaining of synaptophysin in neuronal, glial and some non-neuroepithelial tumors.
METHODS
We selected 104 cases of gangliogliomas, gangliocytomas, central neurocytomas, dysembryoplastic neuroepithelial tumors, astrocytomas, oligodendrogliomas, glioblastomas, a pleomorphic xanthoastrocytoma, meningiomas, arterio-venous malformations, craniopharyngiomas, a foreign body granuloma, temporal lobe epilepsies, and autopsied brains. A representative block including the gray matter was identified for each case, and synaptophysin immunostaining was performed.
RESULTS
Perikaryal and perikaryal surface immunoreactivity for synaptophysin was observed in the neurons of various types of lesions. Percentage of perikaryal and perikaryal surface immunoreactivity of the gangliogliomas, glial tumors, and non-neuroepithelial lesions were 100%/93%, 80%/58% and 57%/26%, respectively.
CONCLUSIONS
Although synaptophysin positive neurons are found in the ganglioglioma, these patterns are clearly not pathognomonic for glioneuronal tumors.

Case Reports

Chordoid Glioma: A Case Report.: Jang Hee Kim, Jae Ho Han, Chull Shim; Korean J Pathol. 2002;36(1):66-69.

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Abstract PDF: The chordoid glioma is a recently recognized rare neoplasm of the third ventricle and hypothalamus and, as the name implies, has a chordoid appearance. Using histological, immunohistochemical and ultrastructural studies, we report a case of a 32-year-old man with a chordoid glioma in the third ventricle. Magnetic resonance T1-weighted images of the brain with homogenous contrast enhancement revealed a well circumscribed, isointense mass occupying the third ventricle. Histologically, the tumor showed cords and clusters of epithelioid cells within a mucinous background along with lymphoplasmacytic infiltrate, and appeared to be reminiscent of a chordoma or chordoid meningioma. Immunohistochemically, the tumor cells were immunoreactive for glial fibrillary acidic protein, vimentin and CD34 but negative for epithelial membrane antigen. Ultrastructural study revealed round to spindle shaped cells with abundant cytoplasmic intermediate filaments and cytoplasmic zonation.

Chordoid Glioma: A Report of Two Cases.: Eun Jung Park, Hyun Sik O, Min Cheol Lee; Korean J Pathol. 2002;36(5):357-361.

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Abstract PDF: Chordoid glioma mainly occurs in the third ventricle, pineal gland, hypothalamus, and suprasella. We report two cases of chordoid gliomas of the third ventricles in adult males. Histologically, the tumors consisted of cords and clusters of oval to polygonal epitheliod cells with abundant cytoplasm. The backgrounds of the tumor show mucinous and lymphoplasmacytic infiltrates. Immunohistochemically, the tumor cells were positive for glial fibrillary acidic protein and negative for epithelial membrane antigen, cytokeratin and neurofilament protein. Histopathologic diagnosis of chordoid glioma should be made judiciously by differentiating them from other chordoid or epithelial tumors of the central nervous system.

Original Article

Alterations of 9p21-22 Region Encoding Genes in Primary Glioblastomas.: Hong Jik Doh, Seong Il Suh, Dong Won Kim, Il Man Kim, Man Bin Yim, Eun Ik Son, Kun Young Kwon, Sang Sook Lee, Sang Pyo Kim; Korean J Pathol. 2002;36(6):394-399.

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Abstract PDF: BACKGROUND
Glioblastomas are one of the most common and aggressive malignant glial tumors occuring in the central nervous system. This study analyzed the status of p15INK4b, p14ARF, p16INK4a, MTAP, IFNA, and IFNB genes in 36 primary glioblastomas to investigate whether the inactivation of these genes participate in primary glioblastoma tumorigenesis.
METHODS
We used polymerase chain reaction, polymerase chain reaction/single strand conformational polymorphism (PCR/SSCP) analysis, and methylation-specific PCR.
RESULTS
Homozygous deletions at the p16INK4a gene were detected in 11 cases (30.5%) of 36 primary glioblastomas, and the promoter hypermethylation was found in 3 cases (8.3%) of 36 primary glioblastomas. In mutational analysis for the p16INK4a gene by PCR/SSCP, there was no abnormal mobility-shifted band in 36 cases of primary glioblastomas. The overall frequency of p16INK4a alterations including homozygous deletion and promoter hypermethylation in 36 primary glioblastomas was 38.8% (14 of 36). Deletions of p15INK4b were noted in 4 cases (11.1%), whereas deletions of the p14ARF and MTAP genes were detected in 1 case of 36 cases of primary glioblastomas. But deletions of the INFA and B genes were not found.
CONCLUSIONS
These results suggest that alterations of the p16INK4a gene can be important mechanisms of the tumorigenesis of primary glioblastomas, and the p16INK4a gene is inactivated by mechanisms including homozygous deletion and promoter hypermethylation.

Case Reports

Congenital Desmoplastic Cerebral Glioblastoma: A Case Report.: Hong Il Ha, Seung Mo Hong, Seung Koo Lee, Shin Kwang Khang; Korean J Pathol. 2002;36(6):440-444.

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Abstract PDF: Desmoplastic cerebral glioblastoma has been described recently and is a very rare histologic variant of glioblastoma. We report a case of congenital cerebral glioblastoma associated with intense desmoplastic stromal reaction. A male infant was born at 36 gestational weeks by Cesarian section. He had a brain tumor, which was detected by fetal ultrasonography. The tumor was partially resected 2 months after the day of the boy's birth and totally resected when he was one year old. The microscopic features of the tumor were those of glioblastoma, including high cellularity, frequent mitotic figures, vascular endothelial proliferation, and geographic palisading necrosis. The tumor showed an area of intense desmoplasia where tumor cells were surrounded by dense reticulin fibers. The desmoplastic cerebral tumors in children may be a distinct group of brain tumor, and it is important to understand the entity of these tumors which generally seem to be associated with more favorable prognosis compared to other high grade brain tumors.

Suprasellar Endodermal Sinus Tumor Presenting with Tonic-Clonic Seizure: An Autopsy Case Report.: Min Jin Lee, Hea Soo Koo, Woon Sup Han, Sun Hee Sung, Yong Jae Kim, Hye Young Choi; Korean J Pathol. 2002;36(6):433-439.

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Abstract PDF: We report the clinical course and autopsy findings of a 19-year-old girl with endodermal sinus tumor involving the thalamus, hypothalamus, and basal ganglia. The patient initially had tonic-clonic seizures with abnormal signal involving the right hippocampus, amygdala, basal ganglia, putamen, and dentate gyrus. The signal intensity of the posterior pituitary on T1-weighted images was decreased at the time of admission, which was not associated with clinical symptoms of diabetes insipidus (DI). A huge tumor mass as well as central DI developed within 10 months. The postmortem examination showed gliosis with calcification involving the right basal ganglia, internal capsule, and white matter, in addition to a tumor mass involving the thalamus, hypothalamus, and basal ganglia. Dissemination of tumor cells in the leptomeninges and the gliotic area and hydrocephalus were also noted.

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