A recurrent kinase domain mutation in PRKCA defines chordoid glioma of the third ventricle

Goode, Benjamin; Mondal, Gourish; Hyun, Michael; Ruiz, Diego Garrido; Lin, Yu; Ziffle, Jessica Van; Joseph, Nancy M.; Onodera, Courtney; Talevich, Eric; Grenert, James P.; Hewedi, Iman H.; Snuderl, Matija; Brat, Daniel J.; Kleinschmidt‐DeMasters, Bette K.; Rodríguez, Fausto J.; Louis, David N.; Yong, William H.; Lopes, M. Beatriz S.; Rosenblum, Marc K.; Butowski, Nicholas; Tihan, Tarık; Bollen, Andrew W.; Phillips, Joanna J.; Wiita, Arun P.; Yeh, Iwei; Jacobson, Matthew P.; Bastian, Boris C.; Perry, Arie; Solomon, David A.

doi:10.1038/s41467-018-02826-8

Cited by 59 publications

(39 citation statements)

References 23 publications

(18 reference statements)

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“…Two cases (primary tumor case #5, and recurrent tumor case #8) were evaluated by next‐generation DNA sequencing (NGS). One was evaluated by the UCSF500 Cancer Panel , which assesses approximately 500 cancer‐associated genes for mutation, copy number alterations and structural variants including gene fusions. An additional tumor was evaluated by the Children's Hospital of Philadelphia Comprehensive Solid Tumor NGS Panel V2.0, which includes sequence and copy number analyses of 238 cancer genes, and fusions associated with 110 cancer genes (genes listed at https://www.testmenu.com/chop/Tests/785967).…”

Section: Methodsmentioning

confidence: 99%

Clinicopathologic features of anaplastic myxopapillary ependymomas

et al. 2019

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Myxopapillary ependymomas (MPE) are considered benign (World Health Organization (WHO) grade I) neoplasms with favorable prognosis. However, malignant behavior occurs in a small subset. To our knowledge, only five anaplastic MPEs have been reported without consensus on diagnostic criteria. We retrieved 14 anaplastic MPEs from the pathology archives of six institutions. Each tumor included at least two of the following features: ≥5 mitoses per 10 high power fields, Ki-67 labeling index (LI) ≥10%, microvascular proliferation (MVP) and spontaneous necrosis. These features were typically encountered in the foci of hypercellularity and reduced mucin. There were eight male and six female patients (age range 6-57 years, median = 16.5). Ten tumors displayed anaplasia at initial resection, and 4 were anaplastic at a second surgery for recurrence (ranging from 9 months to 14 years following initial resection). The Ki-67 LI ranged between 8% and 40% in the anaplastic foci and <3% in the foci of classic MPE. There was documented cerebrospinal fluid (CSF) dissemination in seven cases, recurrence following an anaplastic diagnosis in three cases and bone or soft tissue invasion in two cases. One patient suffered lung metastases. Two cases evaluated by targeted next-generation sequencing and one evaluated by fluorescence in situ hybridization (FISH) showed nonspecific chromosomal gains. We conclude that although rare, anaplastic MPE occurs in both pediatric and adult patients, similar to other ependymomas. At a minimum, closer follow-up is recommended, given the concern for aggressive biologic potential. Further study is needed to determine WHO grading criteria and genetic indicators of tumor progression.

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Section: Methodsmentioning

confidence: 99%

Clinicopathologic features of anaplastic myxopapillary ependymomas

et al. 2019

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“…Chordoid gliomas occupy the anterior portion of the third ventricle, with larger tumors also lling the middle and posterior aspects. They generally arise in the midline and displace normal structures in all directions as they enlarge (2). While there were a few reports that chordoid glioma located outside the third ventricle, such as hemisphere, thalamus, parieto-temporal extra-ventricular, juxtaventricula et al (8).…”

Section: Discussionmentioning

confidence: 99%

Chordoid Glioma of the Third Ventricular with Three less Common Patterns and Three Rare Patterns

Ma¹,

zhu

wang

et al. 2020

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BackgroundChordoid gliomas are rare, low-grade neoplasms of the third ventricle. In the updated 4th edition of the 2016 WHO classification of tumours of the CNS, it described some three less common histological patterns and rare tissue patterns. Case presentationHere we reported a case with all the uncommon patterns. It was a 52-year-old woman with dizziness and blurred vision. Imaging showed a solid tumor located in the third ventricle with a well-circumscribed border. Histological, almost tumor cells formed into atypical glands with different sizes and irregular shapes in an abundant of solid or loosely collagen matrix. Some tumor cells formed into papillary patterns, micro-papillary patterns. pseudoglandular patterns. Some focal tumor cells were spindle-shape. Only few epithelioid tumor cells formed into clusters and cords embedded into a myxoid stroma like the chordoma. No anaplastic features were identified in any lesion. Immunohistochemically, all the tumor cells were strong reactivity for TTF-1. Some tumor cells strong but focal reactivity for GFAP, NEU-N, and CD34. It showed a recurrent D463H missense mutation in PRKCA. All these findings confirm that the diagnosis was chordoid glioma of the third ventricular. ConclusionsThere may be lots of histopathological features in one chordoid glioma case. It maybe suggested that PRKCA D463H mutation and TTF-1 positive may help to diagnose it.

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“…However, the tumour is mostly attached or invades the hypothalamus; consequently, only subtotal resection has been reported. A recent study defined PRKCA mutation as a recurrently mutated oncogene in pilomyxoid astrocytoma, which may have potential therapeutic implications [98].…”

Section: Glial Tumoursmentioning

confidence: 99%

Histopathology of Parasellar Neoplasms

et al. 2020

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The anatomical and histological complexity of the parasellar region as well as the presence of embryonic remnants determine the huge diversity of parasellar neoplasms. Some of them are only located in the parasellar region, whereas others can occur elsewhere, within or outside the central nervous system. Their spectrum ranges from histologically benign and low-grade malignant to high-grade malignant tumours. Although rare, metastases can pose differential diagnostic dilemmas. The severity of the clinical picture, the challenges of surgery and the risk of adverse sequelae related to surgery or radiotherapy make parasellar tumours interesting entities for the clinicians irrespective of their histological malignancy grade. Due to the different cell origins of parasellar tumours, the World Health Organization classification system does not categorise them as a distinct group. Detailed criteria for classification and malignancy grading are presented in the classification systems covering central nervous system tumours, haematological malignancies and tumours of the soft tissue and bone. In the last few years, molecular genetic features have been integrated into the diagnosis of several types of the parasellar tumours enhancing diagnostic accuracy and providing information of the value for targeting therapies. In this review, we will present histopathological and molecular genetic features, updated classification criteria and recent advances in the diagnostics and rationale for novel pharmacological therapies of selected types of parasellar neoplasms.

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A recurrent kinase domain mutation in PRKCA defines chordoid glioma of the third ventricle

Cited by 59 publications

References 23 publications

Clinicopathologic features of anaplastic myxopapillary ependymomas

Clinicopathologic features of anaplastic myxopapillary ependymomas

Chordoid Glioma of the Third Ventricular with Three less Common Patterns and Three Rare Patterns

Histopathology of Parasellar Neoplasms

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