Paediatric diffuse leptomeningeal tumor with glial and neuronal differentiation harbouring chromosome 1p/19q co-deletion and H3.3 K27M mutation: unusual molecular profile and its therapeutic implications
We present a rare instance of a DL-GNT in a 13-year-old female who presented with slowly progressive and sequential neurological deficits over a 12-month duration. Imaging showed leptomeningeal thickening and spinal lesions. Biopsy from the spinal mass showed histomorphological features characteristic of DL-GNT. Further molecular analysis revealed 1p and 19q co-deletion andH3K27M mutation, while no mutation were identified inIDH, TERT, orBRAF genes. Patient died 4 months after diagnosis. Only one previous case of DL-GNT has been reported to harbourH3K27M mutation. AlthoughH3K27M mutations have been described in rare exam...
Source: Brain Tumor Pathology - July 20, 2018 Category: Neurology Source Type: research
A surgical strategy for lower grade gliomas using intraoperative molecular diagnosis
In this study, we have developed a new surgical strategy for lower grade glioma based on the fourth edition of the World Health Organization Brain Tumor Classification, involving intraoperative molecular diagnosis. High-resolution melting analysis was used to evaluateIDH mutational status, while rapid immunohistochemistry of p53 and alpha-thalassemia/mental retardation syndrome X-linked (ATRX) was used to evaluate the 1p/19q codeletion status, allowing genetic classification during surgery. In addition, intraoperative flow cytometry was used to evaluate the surgical cavity for additional tumor lesions, allowing maximal res...
Source: Brain Tumor Pathology - July 6, 2018 Category: Neurology Source Type: research
Histopathological features to define atypical meningioma: What does really matter for prognosis?
This study investigated the ability of histopathological features t o predict recurrence risk of atypical meningiomas. Meningiomas classified as atypical only on minor atypical criteria had low recurrence risk. Brain invasion, high mitotic index and sheeting were significantly associated with shorter disease-free survival (DFS) (P = 0.001;P = 0.01;P = 0.01). The presence of brain invasion and the co-presence of sheeting and high mitotic index had the highest ability to identify recurring meningiomas (P = 0.0001) (sensitivity: 90.9%; specificity: 86.7%). Our results suggest reconsideration of classification ...
Source: Brain Tumor Pathology - July 1, 2018 Category: Neurology Source Type: research
Importance and accuracy of intraoperative frozen section diagnosis of the resection margin for effective carmustine wafer implantation
AbstractFor effective implantation of carmustine (BCNU) wafers, it is important to determine the order of priority with reference to the intraoperative frozen section diagnosis of the resection margin (IOFM). The accuracy of IOFM and patterns of tumor recurrence with implantation of BCNU wafers were studied retrospectively. Forty-six cases of newly diagnosed malignant glioma were evaluated. Tumors were resected after intraoperative frozen section diagnosis (IOFD). IOFM was performed for resection walls and evaluated on a three-level scale ( −, no tumor invasion; 1+, minor cell invasion; 2+, evident cell invasion). The re...
Source: Brain Tumor Pathology - July 1, 2018 Category: Neurology Source Type: research
Paediatric diffuse leptomeningeal tumor with glial and neuronal differentiation harbouring chromosome 1p/19q co-deletion and H3.3 K27M mutation: unusual molecular profile and its therapeutic implications
We present a rare instance of a DL-GNT in a 13-year-old female who presented with slowly progressive and sequential neurological deficits over a 12-month duration. Imaging showed leptomeningeal thickening and spinal lesions. Biopsy from the spinal mass showed histomorphological features characteristic of DL-GNT. Further molecular analysis revealed 1p and 19q co-deletion andH3K27M mutation, while no mutation were identified inIDH, TERT, orBRAF genes. Patient died 4 months after diagnosis. Only one previous case of DL-GNT has been reported to harbourH3K27M mutation. AlthoughH3K27M mutations have been described in rare exam...
Source: Brain Tumor Pathology - July 1, 2018 Category: Neurology Source Type: research
Impact of PCR-based molecular analysis in daily diagnosis for the patient with gliomas
AbstractThe WHO2016 CNS update requires a combined histological and molecular assessment. To assess the major aberrations such as co-deletion of complete chromosome arms 1p and 19q (Co-del), isocitrate dehydrogenase and histone H3 mutations, direct sequencing, multiplex ligation-dependent probe amplification and/or FISH are methods considered to be “golden standard” in the community. However, these methods are expensive and complicated. The aim of this study is verification of the sensitivity of the simple PCR-based techniques for assessment of molecular information in daily diagnosis. We analyzed a total number of 80 ...
Source: Brain Tumor Pathology - July 1, 2018 Category: Neurology Source Type: research
A surgical strategy for lower grade gliomas using intraoperative molecular diagnosis
In this study, we have developed a new surgical strategy for lower grade glioma based on the fourth edition of the World Health Organization Brain Tumor Classification, involving intraoperative molecular diagnosis. High-resolution melting analysis was used to evaluateIDH mutational status, while rapid immunohistochemistry of p53 and alpha-thalassemia/mental retardation syndrome X-linked (ATRX) was used to evaluate the 1p/19q codeletion status, allowing genetic classification during surgery. In addition, intraoperative flow cytometry was used to evaluate the surgical cavity for additional tumor lesions, allowing maximal res...
Source: Brain Tumor Pathology - July 1, 2018 Category: Neurology Source Type: research
Radiological characteristics based on isocitrate dehydrogenase mutations and 1p/19q codeletion in grade II and III gliomas
In conclusion, IDH-Mut/Codel tumors were characterized by calcification, frontal location, heterogeneous signal intensity, and cortical invasion; IDH-Mut tumors differed from IDH-Wt tumors according to predominant frontal lobe location and less frequent dense enhancement patterns. (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - July 1, 2018 Category: Neurology Source Type: research
A case of epidural glioblastoma metastasis presenting with a cervical myelopathy, torticollis, and L ’hermitte’s phenomenon
AbstractExtraneural glioblastoma metastases are exceedingly rare, though previously described in the literature. Activating mutations in theBRAF kinase gene (V600E) are present in a minority of glioblastoma patients. Here, we describe a case of systemic metastases of a clonal subpopulation ofBRAF V600E mutated glioblastoma in a patient previously treated with surgery, radiation, temozolomide and bevacizumab. The patient presented with a subacute cervical myelopathy during adjuvant treatment. He underwent emergent surgical decompression of an epidural spine metastasis. Analysis of the metastatic tumor demonstrated clonal ex...
Source: Brain Tumor Pathology - July 1, 2018 Category: Neurology Source Type: research
Stromal cells of hemangioblastomas exhibit mesenchymal stem cell-derived vascular progenitor cell properties
In conclusion, s tromal cells of hemangioblastomas exhibit mesenchymal stem cell-derived vascular progenitor cell properties. (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - June 23, 2018 Category: Neurology Source Type: research
Impact of PCR-based molecular analysis in daily diagnosis for the patient with gliomas
AbstractThe WHO2016 CNS update requires a combined histological and molecular assessment. To assess the major aberrations such as co-deletion of complete chromosome arms 1p and 19q (Co-del), isocitrate dehydrogenase and histone H3 mutations, direct sequencing, multiplex ligation-dependent probe amplification and/or FISH are methods considered to be “golden standard” in the community. However, these methods are expensive and complicated. The aim of this study is verification of the sensitivity of the simple PCR-based techniques for assessment of molecular information in daily diagnosis. We analyzed a total number of 80 ...
Source: Brain Tumor Pathology - June 21, 2018 Category: Neurology Source Type: research
Radiological characteristics based on isocitrate dehydrogenase mutations and 1p/19q codeletion in grade II and III gliomas
In conclusion, IDH-Mut/Codel tumors were characterized by calcification, frontal location, heterogeneous signal intensity, and cortical invasion; IDH-Mut tumors differed from IDH-Wt tumors according to predominant frontal lobe location and less frequent dense enhancement patterns. (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - June 19, 2018 Category: Neurology Source Type: research
Importance and accuracy of intraoperative frozen section diagnosis of the resection margin for effective carmustine wafer implantation
AbstractFor effective implantation of carmustine (BCNU) wafers, it is important to determine the order of priority with reference to the intraoperative frozen section diagnosis of the resection margin (IOFM). The accuracy of IOFM and patterns of tumor recurrence with implantation of BCNU wafers were studied retrospectively. Forty-six cases of newly diagnosed malignant glioma were evaluated. Tumors were resected after intraoperative frozen section diagnosis (IOFD). IOFM was performed for resection walls and evaluated on a three-level scale ( −, no tumor invasion; 1+, minor cell invasion; 2+, evident cell invasion). The re...
Source: Brain Tumor Pathology - June 14, 2018 Category: Neurology Source Type: research
A case of epidural glioblastoma metastasis presenting with a cervical myelopathy, torticollis, and L ’hermitte’s phenomenon
AbstractExtraneural glioblastoma metastases are exceedingly rare, though previously described in the literature. Activating mutations in theBRAF kinase gene (V600E) are present in a minority of glioblastoma patients. Here, we describe a case of systemic metastases of a clonal subpopulation ofBRAF V600E mutated glioblastoma in a patient previously treated with surgery, radiation, temozolomide and bevacizumab. The patient presented with a subacute cervical myelopathy during adjuvant treatment. He underwent emergent surgical decompression of an epidural spine metastasis. Analysis of the metastatic tumor demonstrated clonal ex...
Source: Brain Tumor Pathology - May 9, 2018 Category: Neurology Source Type: research
The 2017 WHO classification of pituitary adenoma: overview and comments
AbstractThe fourth edition of the World Health Organization classification of endocrine tumors has been recently published. There are two critical changes to the classification for pituitary adenomas in this edition. One is that the term “atypical adenoma,” which was characterized based on highly proliferative properties to predict adenomas that carry a poor prognosis, was completely eliminated due to the lack of definitive evidence. The other change is the introduction of more precise cell lineage-based classification of pituit ary adenoma that is defined based on lineage-specific transcription factors and hormones pr...
Source: Brain Tumor Pathology - April 23, 2018 Category: Neurology Source Type: research
