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Brain Tumor Pathology

Guiyan Xu, Hongwu Zheng, Jian Yi Li
Glioblastoma with a primitive neuronal component (GBM-PN) was renamed from glioblastoma with primitive neuroectodermal tumor-like component (GBM-PNET) in the new WHO classification of tumors of the central nervous system in 2016. GBM-PN is a rare variant of glioblastoma. There were not so many publications on the investigation of GBM-PN. We did whole exome sequencing for 11 GBM-PN cases and found that the percentage of TP53, PIK3CA, PIK3R1, or PTEN mutation in our GBM-PN cases (72.7%, 27.3%, 27.3%, and 27.3% respectively) was much higher than that in cases in TCGA GBM 2008, TCGA GBM 2013, and TCGA lower-grade glioma databases...
February 4, 2019: Brain Tumor Pathology
N J H Tan, I S Y Sun, S W Low, C H Kuick, K T E Chang, C L Tan
Solitary fibrous tumors/ hemangiopericytomas (SFT/HPC) are mesenchymal tumors that share a common genetic aberration and very rarely undergo dedifferentiation. We report a unique case of an intracranial anaplastic SFT/HPC with de-novo dedifferentiation, which pursued a rapidly fatal clinical course in a 41-year-old lady. The dedifferentiated component comprised a focal area of glandular formation with epithelial immunophenotype acquisition. The distinct biphasic pattern of the tumor imparted great diagnostic challenges to the pathologists...
January 2, 2019: Brain Tumor Pathology
Maria Łastowska, Joanna Trubicka, Agnieszka Karkucińska-Więckowska, Magdalena Kaleta, Magdalena Tarasińska, Marta Perek-Polnik, Anna Antonina Sobocińska, Bożenna Dembowska-Bagińska, Wiesława Grajkowska, Ewa Matyja
Expression of the ALK gene strongly correlates with the WNT-activated medulloblastomas, which are routinely identified by detection of CTNNB1 mutation. However, some tumors have mutations in other than CTNNB1 genes. Therefore, we investigated if ALK expression may identify WNT-activated tumors without CTNNB1 mutation. In addition, we examined if ALK expression may differentiate WNT-activated medulloblastoma from other malignant posterior fossa tumors. ALK expression was analyzed using immunohistochemistry (clone D5F3) in 70 patients with posterior fossa tumours...
December 6, 2018: Brain Tumor Pathology
Satoko Nakada, Yasuo Sasagawa, Osamu Tachibana, Hideaki Iizuka, Nozomu Kurose, Akihiro Shioya, Xin Guo, Sohsuke Yamada, Takayuki Nojima
WHO grade II/III meningiomas recur frequently and there is currently no established molecular target therapy for meningioma. No previous studies have revealed the association between receptor tyrosine kinases (RTKs) and the recurrence of meningiomas. This study aims to elucidate the association between RTKs and the clinicopathological characteristics and recurrence of meningioma. We investigated the immunohistochemical expression of RTKs (VEGFR-1/2/3, PDGFR-alpha/beta and c-Kit) in 81 meningiomas (WHO grade I, n = 64, WHO grade II/III, n = 17) in 74 patients...
December 5, 2018: Brain Tumor Pathology
Yoshiko Nakano, Arata Tomiyama, Takashi Kohno, Akihiko Yoshida, Kai Yamasaki, Tatsuya Ozawa, Kohei Fukuoka, Hiroko Fukushima, Takeshi Inoue, Junichi Hara, Hiroaki Sakamoto, Koichi Ichimura
The proto-oncogene tyrosine-protein kinase ROS1 (ROS1) is a tyrosine kinase that is closely related to anaplastic lymphoma kinase receptor (ALK). We describe a novel KLC1-ROS1 fusion identified in a case of pediatric low-grade glioma. This was detected by RNA sequencing and confirmed by reverse-transcription PCR and fluorescent in situ hybridization. Immunohistochemical staining for ROS1 was positive in the tumor cytoplasm. In vitro analysis demonstrated the oncogenic activity of this fusion, which was suppressed by the ALK/ROS1 inhibitor, crizotinib...
October 22, 2018: Brain Tumor Pathology
Char Loo Tan, Balamurugan Vellayappan, Bingcheng Wu, Tseng Tsai Yeo, Roger E McLendon
Ollier disease (OD) and Maffucci syndrome are rare conditions due to a post-zygotic somatic mutation that results in mosaicism. In addition to enchondromas and hemangiomas, some of these patients also develop other unrelated tumors, such as gliomas, that harbor IDH mutations, suggesting that an IDH mutation is a common genetic event in the tumorigenesis in this group of patients. We illustrate an interesting case of multifocal IDH-mutant astrocytomas in an OD patient with 8 years of follow-up. We first demonstrated identical IDH mutations in the brain tumor samples from various locations in this patient, but different 1p,19q results by fluorescent in-situ hybridization, different whole genome copy number profiles by OncoScan analysis, and a discrepant IDH2M131I mutation unique to one tumor, supporting a multifocal disease process in the setting of somatic IDH mosaicism...
October 2018: Brain Tumor Pathology
Ilaria Girolami, Luca Cima, Claudio Ghimenton, Marina Zannoni, Aldo Mombello, Giulio Riva, Vito Cirielli, Gabriele Corradi, Alberto Vogrig, Gioia Di Stefano, Luca Novelli, Marco Gessi, Albino Eccher
Primary melanocytic tumors of central nervous system represent rare tumors arising from melanocytes of the leptomeninges. These neoplasms include focal forms like melanocytoma and primary malignant melanoma and diffuse forms like leptomeningeal melanocytosis and primary leptomeningeal melanomatosis. The clinical diagnosis remains challenging, with clinical and radiologic features overlapping with other more common diseases. Here we present a case of a 38 years old male with primary diffuse leptomeningeal melanomatosis with presence of a NRASQ61K mutation without features of neurocutaneous melanosis...
October 2018: Brain Tumor Pathology
Tomohiro Yamasaki, Naoto Sakai, Kazuya Shinmura, Hiroshi Kawaji, Shinichiro Koizumi, Tetsuro Samashima, Hiroki Namba
Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a rare glioneuronal neoplasm with oligodendroglioma-like cells confined in the subarachnoid spaces. A great majority of DLGNT are histologically low grade. However, some tumors show features of anaplasia with increased mitotic and proliferative activity. Due to the limited number of patients and inadequate clinical follow-up reported to date, the WHO classification does not yet assign a distinct WHO grade to this entity. Polar spongioblastoma pattern, in which bipolar cells are arranged in parallel with palisading nuclei, remains poorly understood about the pathological process of forming this pattern...
October 2018: Brain Tumor Pathology
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No abstract text is available yet for this article.
September 5, 2018: Brain Tumor Pathology
Aruna Nambirajan, Vaishali Suri, Sweta Kedia, Keshav Goyal, Prit Benny Malgulwar, Gaurav Khanna, Prateek Kumar Panda, Sheffali Gulati, Ajay Garg, Mehar Chand Sharma
Diffuse leptomeningeal glioneuronal tumor (DL-GNT) is a newly introduced tumor entity of uncertain prognosis characterised by a primary diffuse leptomeningeal growth pattern, oligodendroglial-like morphology and dual glial/neuronal differentiation. Predominantly occurring in children, these tumors present as chronic meningitis and mimic infectious/inflammatory diseases. They are surgically challenging tumors with a high incidence of delayed morbidity and mortality despite low-grade histology. Their molecular genetic profile is not fully elucidated and few reports have identified chromosome 1p and 19q deletions, and BRAF alterations...
July 2018: Brain Tumor Pathology
Shunichi Koriyama, Masayuki Nitta, Tatsuya Kobayashi, Yoshihiro Muragaki, Akane Suzuki, Takashi Maruyama, Takashi Komori, Kenta Masui, Taiichi Saito, Takayuki Yasuda, Junji Hosono, Saori Okamoto, Takahiro Shioyama, Hiroaki Yamatani, Takakazu Kawamata
Lower grade gliomas are both treated and diagnosed via surgical resection. Maximum tumor resection is currently the standard of care; however, this risks the loss of brain function. Glioma can be genetically subdivided into three different types, based on isocitrate dehydrogenase (IDH) mutation status and the presence of 1p/19q codeletion, which have radically different prognoses and responses to adjuvant therapies. Therefore, the means to identify the subtype and evaluate the surrounding tissues during surgery would be advantageous...
July 2018: Brain Tumor Pathology
Kenichiro Asano, Akira Kurose, Akihisa Kamataki, Noriko Kato, Kaoru Ogawa, Kosuke Katayama, Kiyohide Kakuta, Toshio Fumoto, Hiroki Ohkuma
For 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)...
July 2018: Brain Tumor Pathology
Valeria Barresi, Simona Lionti, Samuel Caliri, Maria Caffo
Atypical meningiomas are diagnosed in the presence of: (1) three or more of the following minor atypical criteria: increased cellularity, small cells with a high nuclear/cytoplasmic ratio, prominent nucleoli, sheeting, and foci of spontaneous or geographic necrosis; (2) mitotic count ≥ 4 mitoses per 10 HPF (high mitotic index); (3) brain invasion. The 5-year disease-free survival (DFS) is around 50%. Due to their heterogeneous behavior, the post-surgical treatment of atypical meningiomas is controversial...
July 2018: Brain Tumor Pathology
Shigeki Takada, Masato Hojo, Noriyoshi Takebe, Kenji Tanigaki, Susumu Miyamoto
Hemangioblastoma is composed of neoplastic stromal cells and a prominent capillary network. To date, the identity of stromal cells remains unclear. Mesenchymal stem cells can give rise to committed vascular progenitor cells, and ephrin-B2/EphB4 and Notch signaling have crucial roles in these steps. The aim of our study was to elucidate that stromal cells of central nervous system hemangioblastomas have mesenchymal stem cell-derived vascular progenitor cell properties. Ten hemangioblastomas were investigated immunohistochemically...
June 23, 2018: Brain Tumor Pathology
Kiyotaka Yokogami, Koji Yamasaki, Fumitaka Matsumoto, Shinji Yamashita, Kiyotaka Saito, Asya Tacheva, Asako Mizuguchi, Takashi Watanabe, Hajime Ohta, Hideo Takeshima
The 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...
June 21, 2018: Brain Tumor Pathology
Takahiro Yamauchi, Makoto Ohno, Yuko Matsushita, Masamichi Takahashi, Yasuji Miyakita, Yosuke Kitagawa, Erika Kondo, Natsuko Tsushita, Kaishi Satomi, Akihiko Yoshida, Koichi Ichimura, Yoshitaka Narita
The radiological features of lower-grade gliomas (LGGs) classified according to isocitrate dehydrogenase (IDH) mutations and codeletion of chromosomal arms 1p and 19q (1p/19q codeletion) remain unclear. We aimed to systematically characterize the radiological features of molecularly classified LGGs using IDH and 1p/19q codeletion statuses. One hundred and one LGGs were re-classified into 36 tumors with IDH mutations (IDH-Mut), 35 tumors with IDH-Mut and 1p/19q codeletion (IDH-Mut/Codel), and 30 tumors with wildtype IDH (IDH-Wt)...
June 19, 2018: Brain Tumor Pathology
Michael W Ruff, Adip G Bhargav, Aditya Raghunathan
Extraneural glioblastoma metastases are exceedingly rare, though previously described in the literature. Activating mutations in the BRAF kinase gene (V600E) are present in a minority of glioblastoma patients. Here, we describe a case of systemic metastases of a clonal subpopulation of BRAF 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...
May 9, 2018: Brain Tumor Pathology
Naoko Inoshita, Hiroshi Nishioka
The 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 pituitary adenoma that is defined based on lineage-specific transcription factors and hormones produced...
April 2018: Brain Tumor Pathology
Masayuki Kanamori, Masamitsu Maekawa, Ichiyo Shibahara, Ryuta Saito, Masashi Chonan, Miki Shimada, Yukihiko Sonoda, Toshihiro Kumabe, Mika Watanabe, Nariyasu Mano, Teiji Tominaga
The 2016 World Health Organization classification of tumors of the central nervous system was recently revised. Mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes and chromosome 1p/19q codeletion are especially important for both the integrated diagnosis and the determination of surgical strategy. To establish a method for intraoperative molecular diagnosis, a simple, rapid method was developed for the measurement of 2-hydroxyglutarate (2-HG), a specific oncometabolite formed in the presence of IDH gene mutation, using liquid chromatography/electrospray ionization tandem mass spectrometry (LC/ESI-MS/MS)...
April 2018: Brain Tumor Pathology
Takumi Kajitani, Masayuki Kanamori, Ryuta Saito, Yuko Watanabe, Hiroyoshi Suzuki, Mika Watanabe, Shigeo Kure, Teiji Tominaga
Radiation therapy is sometimes performed to control intracranial acute lymphoblastic leukemia (ALL), but may lead to radiation-induced malignant glioma. The clinical, radiological, histological, and molecular findings are described of three cases of radiation-induced glioblastoma after the treatment for ALL. They received radiation therapy at age 6-8 years. The latency from radiation therapy to the onset of radiation-induced glioblastoma was 5-10 years. Magnetic resonance imaging demonstrated diffuse lesions with multiple small enhanced lesions in all cases...
April 2018: Brain Tumor Pathology
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