Molecular features of pleomorphic xanthoastrocytoma

Zou, Han; Duan, Yumei; Wei, Dong; Zhang, Yiqian; Dai, Jiacheng; Li, Junzhi; Li, Xiaojie; Zhou, Jianhua; Liu, Zhixiong; Jin, Zhongyuan; Zhang, Zhou; Yang, Yu; Hu, Ziyi

doi:10.1016/j.humpath.2018.08.038

Cited by 19 publications

(6 citation statements)

References 15 publications

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“…Immunohistochemistry was performed on 2.5–3.0‐μm formalin‐fixed, paraffin‐embedded (FFPE) whole‐tissue sections, as described in previous studies 13–19 . Briefly, antigens were retrieved in a pressure cooker for 2.5 min.…”

Section: Methodsmentioning

confidence: 99%

Frequent KRAS mutations in oncocytic papillary renal neoplasm with inverted nuclei

Tong

Zhu

et al. 2020

Histopathology

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Aims: Papillary renal neoplasm with reverse polarity (PRNRP) is a newly documented rare tumour type. Its molecular pathological features have thus far been very little studied. Methods and results: There were 13 PRNRP cases including 3 The Cancer Genome Atlas (TCGA) cases and our 10 cases in this study. The 3 TCGA cases were found by a combined analysis of GATA3 mRNA expression levels and digital slides from the TCGA papillary renal cell carcinoma project. KRAS codon 12 mutations were identified in the three PRNRPs from TCGA. Of our 10 PRNRP cases, the mutations were also discovered using Sanger sequencing in seven (77.8%) of nine cases with available DNA, where KRAS p.G12V (n = 3), p.G12D (n = 2), p.G12R (n = 1) and p.G12C (n = 1) alterations were found. PRNRP shared similar gene expression profiles with renal distal tubules via an interprofile correlation analysis. Gene set enrichment analysis revealed that genes involved in 'KEGG aldosterone regulated sodium reabsorption' or 'hallmark apical surface' were enriched in PRNRP. Moreover, polarised immunostaining patterns for L1CAM and EMA in the distal tubule were maintained in PRNRP. Conclusions: These results imply that the tumour potentially originates from the distal tubule, especially from the cortical collecting duct, and probably retains its cell polarity, except for nuclear inversion. We therefore propose that oncocytic papillary renal neoplasm with inverted nuclei (OPR-NIN) is a better name for this tumour type. OPRNIN is a kidney site-specific KRAS mutation neoplasm different from conventional papillary renal cell carcinoma.

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Section: Methodsmentioning

confidence: 99%

Frequent KRAS mutations in oncocytic papillary renal neoplasm with inverted nuclei

Tong

Zhu

et al. 2020

Histopathology

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“…Anaplastic PXA is a rare tumor and complete specific mutation profiles have not been established. Based on targeted panel sequencing, the most frequent somatic mutations detected in PXA are BRAF, FANCA/D2/I/M, PRKDC, NF1, NOTCH2/3/4, and CDKN2A (Park et al, 2017;Zou et al, 2019). In this study, the tumors were characterized by some of these genetic alterations: BRAF, FANCD2, and CDKN2A found in all lesions.…”

Section: Discussionmentioning

confidence: 75%

Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant

et al. 2021

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Four organ transplant recipients from an organ donor diagnosed with anaplastic pleomorphic xanthoastrocytoma developed fatal malignancies for which the origin could not be confirmed by standard methods. We identified the somatic mutational profiles of the neoplasms using next-generation sequencing technologies and tracked the relationship between the different samples. The data were consistent with the presence of an aggressive clonal entity in the donor and the subsequent proliferation of descendent tumors in each recipient. Deleterious mutations in BRAF, PIK3CA, SDHC, DDR2, and FANCD2, and a chromosomal deletion spanning the CDKN2A/B genes, were shared between the recipients’ lesions. In addition to demonstrating that DNA sequencing tracked a donor/recipient cancer transmission, this study established that the genetic profile of a donor tumor and its potential aggressive phenotype could have been determined before transplantation was considered. As the genetic correlates of tumor invasion and metastases become better known, adding genetic profiling by DNA sequencing to the data considered for transplant safety should be considered.

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“…Regarding pathogenesis, the most commonly involved pathway in their tumorigenesis is MAPK [ 3 ]. To this are added fusions of the BRAF kinase domain and/or alterations of the Pi3K/AKT/mTOR pathway [ 3 , 41 , 42 ]. In order to evaluate the aggressiveness, we evaluated the CDKN2A gene.…”

Section: Discussionmentioning

confidence: 99%

Prognostic Factors of Low-Grade Gliomas in Adults

et al. 2022

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Adult low-grade gliomas are a rare and aggressive pathology of the central nervous system. Some of their characteristics contribute to the patient’s life expectancy and to their management. This study aimed to characterize and identify the main prognostic factors of low-grade gliomas. The six-year retrospective study statistically analyzed the demographic, imaging, and morphogenetic characteristics of the patient group through appropriate parameters. Immunohistochemical tests were performed: IDH1, Ki-67, p53, and Nestin, as well as FISH tests on the CDKN2A gene and 1p/19q codeletion. The pathology was prevalent in females, with patients having an average age of 56.31 years. The average tumor volume was 41.61 cm3, producing a midline shift with an average of 7.5 mm. Its displacement had a negative impact on survival. The presence of a residual tumor resulted in decreased survival and is an independent risk factor for mortality. Positivity for p53 identified a low survival rate. CDKN2A mutations were an independent risk factor for mortality. We identified that a negative prognosis is influenced by the association of epilepsy with headache, tumor volume, and immunoreactivity to IDH1 and p53. Independent factors associated with mortality were midline shift, presence of tumor residue, and CDKN2A gene deletions and amplifications.

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Molecular features of pleomorphic xanthoastrocytoma

Cited by 19 publications

References 15 publications

Frequent KRAS mutations in oncocytic papillary renal neoplasm with inverted nuclei

Frequent KRAS mutations in oncocytic papillary renal neoplasm with inverted nuclei

Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant

Prognostic Factors of Low-Grade Gliomas in Adults

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