Malignant transformation of a gangliocytoma/ganglioglioma into a glioblastoma multiforme: a molecular genetic analysis

2001 ◽  
Vol 95 (1) ◽  
pp. 138-142 ◽  
Author(s):  
Yutaka Hayashi ◽  
Masayuki Iwato ◽  
Mitsuhiro Hasegawa ◽  
Osamu Tachibana ◽  
Andreas von Deimling ◽  
...  
Keyword(s):  
Glioblastoma Multiforme ◽  
Molecular Analysis ◽  
Molecular Genetic ◽  
Growth Factor Receptor ◽  
Molecular Genetic Analysis ◽  
World Health ◽  
Recurrent Tumor ◽  
Content Type ◽  
Multinucleated Cells ◽  
Second Resection

✓ A gangliocytoma/ganglioglioma with no atypical or malignant features was subtotally resected from the right temporal lobe of a 16-year-old woman. A second resection was performed 8 years later to treat a locally recurrent lesion with increased cellularity that was diagnosed as a World Health Organization Grade II ganglioglioma on the basis of neuropathological examination. Molecular analysis of the recurrent tumor revealed a TP53 gene mutation, but no amplification of the epidermal growth factor receptor (EGFR) gene. Radiotherapy (60 Gy) was administered after the second resection. The patient returned 1 year later with a second focal recurrence. The specimen obtained during the third resection of tumor exhibited exclusively astrocytic differentiation, cellular pleomorphism with multinucleated cells, high mitotic activity, and endothelial proliferation. Therefore, the tumor was diagnosed to be a glioblastoma multiforme (GBM). Molecular analysis of tumor DNA from the second recurrent tumor demonstrated the presence of the TP53 mutation, which previously had been observed in the first recurrent tumor, but again no evidence of EGFR amplification. Findings demonstrate that the presence of TP53 mutation in progressed gangliogliomas should be interpreted as a progression-associated mutation rather than a consequence of treatment. This is the first report to indicate that the molecular pathways of gangliocytomas/gangliogliomas progressing to become GBMs may parallel those of diffuse astrocytomas progressing to become GBMs.

Focal hyperperfusion in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

2001 ◽  
Vol 94 (1) ◽  
pp. 133-136 ◽  
Author(s):  
Kenichi Amagasaki ◽  
Tsuneo Shimizu ◽  
Yoko Suzuki ◽  
Toshiyuki Kakizawa
Keyword(s):  
Lactic Acidosis ◽  
Genetic Analysis ◽  
Mitochondrial Myopathy ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Metabolic Dysfunction ◽  
Nucleotide Pair ◽  
Content Type ◽  
Typical Point ◽  
Fine Print

✓ 28-year-old woman presented with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). The diagnosis was based on the results of molecular genetic analysis, which indicated a typical point mutation at the nucleotide pair 3243. Xenon computerized tomography scans obtained during the strokelike episodes revealed the lesion responsible for the symptoms to be an area of focal hyperperfusion, and scans obtained after the episodes revealed an area of hypoperfusion. Pathogenesis of the strokelike episodes appears to be metabolic dysfunction, although the involvement of a vascular event cannot be excluded.

scholarly journals Actinoplanes Swims into the Molecular Age

2017 ◽  
Vol 199 (12) ◽  
Author(s):  
Mark J. Buttner
Keyword(s):  
Life Cycle ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Survival Strategy ◽  
Evolutionary Perspective ◽  
Content Type ◽  
Link Type

ABSTRACT The survival strategy of Actinoplanes is fascinating from an evolutionary perspective, combining a short motile phase in an otherwise nonmotile, filamentous life cycle and the somewhat paradoxical concept of spores—normally thought of as a resting stage—that swim. In the first paper to report a molecular genetic analysis of development in Actinoplanes, the authors identify a key regulator of the entry into development (Y. Mouri, K. Konishi, A. Fujita, T. Tezuka, Y. Ohnishi, J Bacteriol 199:e00840-16, 2017, https://doi.org/10.1128/JB.00840-16 ).

scholarly journals Genome Sequence of the Oleaginous Red Yeast Rhodosporidium toruloides MTCC 457

2012 ◽  
Vol 11 (8) ◽  
pp. 1083-1084 ◽  
Author(s):  
Shailesh Kumar ◽  
Hariom Kushwaha ◽  
Anand Kumar Bachhawat ◽  
Gajendra Pal Singh Raghava ◽  
Kaliannan Ganesan
Keyword(s):  
Genome Sequence ◽  
De Novo ◽  
Molecular Genetic ◽  
Draft Genome ◽  
Molecular Genetic Analysis ◽  
Rhodosporidium Toruloides ◽  
Biofuel Production ◽  
Content Type ◽  
Oleaginous Fungi ◽  
Red Yeast

ABSTRACTWe report thede novoassembled 20.05-Mb draft genome of the red yeastRhodosporidium toruloidesMTCC 457, predicted to encode 5,993 proteins, 4 rRNAs, and 125 tRNAs. Proteins known to be unique to oleaginous fungi are present among the predicted proteins. The genome sequence will be valuable for molecular genetic analysis and manipulation of lipid accumulation in this yeast and for developing it as a potential host for biofuel production.

Serial proton magnetic resonance spectroscopy imaging of glioblastoma multiforme after brachytherapy

1997 ◽  
Vol 87 (4) ◽  
pp. 525-534 ◽  
Author(s):  
Lawrence L. Wald ◽  
Sarah J. Nelson ◽  
Mark R. Day ◽  
Susan E. Noworolski ◽  
Roland G. Henry ◽  
...  
Keyword(s):  
Glioblastoma Multiforme ◽  
Magnetic Resonance ◽  
Proton Magnetic Resonance ◽  
Proton Magnetic Resonance Spectroscopy ◽  
Radiation Necrosis ◽  
Resonance Spectroscopy ◽  
Recurrent Tumor ◽  
Imaging Data ◽  
Content Type ◽  
Fine Print

✓ The utility of three-dimensional (3-D) proton magnetic resonance spectroscopy (1H-MRS) imaging for detecting metabolic changes after brain tumor therapy was assessed in a serial study of 58 total examinations of 12 patients with glioblastoma multiforme (GBM) who received brachytherapy. Individual proton spectra from the 3-D array of spectra encompassing the lesion showed dramatic differences in spectral patterns indicative of radiation necrosis, recurrent or residual tumor, or normal brain. The 1H-MRS imaging data demonstrated significant differences between suspected residual or recurrent tumor and contrast-enhancing radiation-induced necrosis. Regions of abnormally high choline (Cho) levels, consistent with viable tumor, were detected beyond the regions of contrast enhancement for all 12 gliomas. Changes in the serial 1H-MRS imaging data were observed, reflecting an altered metabolism following treatment. These changes included the significant reduction in Cho levels after therapy, indicating the transformation of tumor to necrotic tissue. For patients who demonstrated subsequent clinical progression, an increase in Cho levels was observed in regions that previously appeared either normal or necrotic. Several patients showed regional variations in response to brachytherapy as evaluated by 1H-MRS imaging. This study demonstrates the potential of noninvasive 3-D 1H-MRS imaging to discriminate between the formation of contrast-enhancing radiation necrosis and residual or recurrent tumor following brachytherapy. This modality may also allow better definition of tumor extent prior to brachytherapy by detecting the presence of abnormal metabolite levels in nonenhancing regions of solid tumor.

scholarly journals A Modified Shuttle Plasmid Facilitates Expression of a Flavin Mononucleotide-Based Fluorescent Protein in Treponema denticola ATCC 35405

2015 ◽  
Vol 81 (18) ◽  
pp. 6496-6504 ◽  
Author(s):  
Valentina Godovikova ◽  
M. Paula Goetting-Minesky ◽  
Jae M. Shin ◽  
Yvonne L. Kapila ◽  
Alexander H. Rickard ◽  
...  
Keyword(s):  
Fluorescent Protein ◽  
Transformation Efficiency ◽  
Molecular Genetic ◽  
Methylation Status ◽  
Molecular Genetic Analysis ◽  
Fluorescence Labeling ◽  
Flavin Mononucleotide ◽  
Treponema Denticola ◽  
Content Type ◽  
Shuttle Plasmid

ABSTRACTOral pathogens, includingTreponema denticola, initiate the dysregulation of tissue homeostasis that characterizes periodontitis. However, progress of research on the roles ofT. denticolain microbe-host interactions and signaling, microbial communities, microbial physiology, and molecular evolution has been hampered by limitations in genetic methodologies. This is typified by an extremely low transformation efficiency and inability to transform the most widely studiedT. denticolastrain with shuttle plasmids. Previous studies have suggested that robust restriction-modification (R-M) systems inT. denticolacontributed to these problems. To facilitate further molecular genetic analysis ofT. denticolabehavior, we optimized existing protocols such that shuttle plasmid transformation efficiency was increased by >100-fold over prior reports. Here, we report routine transformation ofT. denticolaATCC 35405 with shuttle plasmids, independently of both plasmid methylation status and activity of the type II restriction endonuclease encoded by TDE0911. To validate the utility of this methodological advance, we demonstrated expression and activity inT. denticolaof a flavin mononucleotide-based fluorescent protein (FbFP) that is active under anoxic conditions. Addition of routine plasmid-based fluorescence labeling to theTreponematoolset will enable more-rigorous and -detailed studies of the behavior of this organism.

scholarly journals Pediatric Glioma: An Update of Diagnosis, Biology, and Treatment

Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 758
Author(s):  
Yusuke Funakoshi ◽  
Nobuhiro Hata ◽  
Daisuke Kuga ◽  
Ryusuke Hatae ◽  
Yuhei Sangatsuda ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Molecular Data ◽  
Molecular Genetic Analysis ◽  
Cns Tumors ◽  
World Health ◽  
Biological Behavior ◽  
Cns Tumor ◽  
Health Organization ◽  
Prediction Of Prognosis

Recent research has promoted elucidation of the diverse biological processes that occur in pediatric central nervous system (CNS) tumors. Molecular genetic analysis is essential not only for proper classification, but also for monitoring biological behavior and clinical management of tumors. Ever since the 2016 World Health Organization classification of CNS tumors, molecular profiling has become an indispensable step in the diagnosis, prediction of prognosis, and treatment of pediatric as well as adult CNS tumors. These molecular data are changing diagnosis, leading to new guidelines, and offering novel molecular targeted therapies. The Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy (cIMPACT-NOW) makes practical recommendations using recent advances in CNS tumor classification, particularly in molecular discernment of these neoplasms as morphology-based classification of tumors is being replaced by molecular-based classification. In this article, we summarize recent knowledge to provide an overview of pediatric gliomas, which are major pediatric CNS tumors, and describe recent developments in strategies employed for their diagnosis and treatment.

The hPMS2 exon 5 mutation and malignant glioma

1999 ◽  
Vol 90 (5) ◽  
pp. 946-950 ◽  
Author(s):  
Michael D. Taylor ◽  
James Perry ◽  
Magdalena C. Ƶlatescu ◽  
Anat O. Stemmer-Rachamimov ◽  
L. C. Ang ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Molecular Genetic ◽  
Genetic Defect ◽  
Malignant Gliomas ◽  
Molecular Genetic Analysis ◽  
Allelic Loss ◽  
Mismatch Repair Gene ◽  
Polymorphism Analysis ◽  
Repair Gene ◽  
Content Type

✓ Patients with Turcot syndrome (TS) are predisposed to colon tumors and primary brain tumors, typically glioblastomas or medulloblastomas. The authors describe a patient with TS featuring a known germline mutation of exon 5 of the hPMS2 mismatch repair gene who developed two metachronous glioblastomas, both with distinct oligodendroglial features. Molecular genetic analysis revealed allelic loss of chromosome 19q in the patient's second tumor but no allelic loss of chromosome 1p. Prominent microsatellite instability was also found in this tumor, consistent with a germline mismatch repair defect. Because this patient had an unusual underlying condition and his tumor had a unique histological appearance for TS, it was hypothesized that this genetic defect may predispose to malignant gliomas with oligodendroglial features. The authors therefore evaluated whether sporadic glioblastomas and oligodendrogliomas undergo mutations of this region of the hPMS2 gene. However, single-strand conformation polymorphism analysis of hPMS2 exon 5 failed to reveal mutations in 20 sporadic glioblastomas and 16 sporadic oligodendroglial gliomas. Thus, although it is possible that the germline hPMS2 exon 5 mutation may predispose to glioblastomas with an oligodendroglial component, the same genetic defect is not commonly involved in sporadic oligodendrogliomas or glioblastomas.

Accelerated fractionated proton/photon irradiation to 90 cobalt gray equivalent for glioblastoma multiforme: results of a phase II prospective trial

1999 ◽  
Vol 91 (2) ◽  
pp. 251-260 ◽  
Author(s):  
Markus M. Fitzek ◽  
Allan F. Thornton ◽  
James D. Rabinov ◽  
Michael H. Lev ◽  
Francisco S. Pardo ◽  
...  
Keyword(s):  
Glioblastoma Multiforme ◽  
Survival Time ◽  
Median Survival ◽  
Phase Ii ◽  
Median Survival Time ◽  
Radiation Necrosis ◽  
Recurrent Tumor ◽  
Content Type ◽  
Accelerated Fractionation ◽  
Fine Print

Object. After conventional doses of 55 to 65 Gy of fractionated irradiation, glioblastoma multiforme (GBM) usually recurs at its original location. This institutional phase II study was designed to assess whether dose escalation to 90 cobalt gray equivalent (CGE) with conformal protons and photons in accelerated fractionation would improve local tumor control and patient survival.Methods. Twenty-three patients were enrolled in this study. Eligibility criteria included age between 18 and 70 years, Karnofsky Performance Scale score of greater than or equal to 70, residual tumor volume of less than 60 ml, and a supratentorial, unilateral tumor.Actuarial survival rates at 2 and 3 years were 34% and 18%, respectively. The median survival time was 20 months, with four patients alive 22 to 60 months postdiagnosis. Analysis by Radiation Therapy Oncology Group prognostic criteria or Medical Research Council indices showed a 5- to 11-month increase in median survival time over those of comparable conventionally treated patients. All patients developed new areas of gadolinium enhancement during the follow-up period. Histological examination of tissues obtained at biopsy, resection, or autopsy was conducted in 15 of 23 patients. Radiation necrosis only was demonstrated in seven patients, and their survival was significantly longer than that of patients with recurrent tumor (p = 0.01). Tumor regrowth occurred most commonly in areas that received doses of 60 to 70 CGE or less; recurrent tumor was found in only one case in the 90-CGE volume.Conclusions. A dose of 90 CGE in accelerated fractionation prevented central recurrence in almost all cases. The median survival time was extended to 20 months, likely as a result of central control. Tumors will usually recur in areas immediately peripheral to this 90-CGE volume, but attempts to extend local control by enlarging the central volume are likely to be limited by difficulties with radiation necrosis.

Subsets of Glioblastoma Multiforme Defined by Molecular Genetic Analysis

1993 ◽  
Vol 3 (1) ◽  
pp. 19-26 ◽  
Author(s):  
Andreas Deimling ◽  
Klaus Ammon ◽  
David Schoenfeld ◽  
Otmar D. Wiestler ◽  
Bernd R. Seizinger ◽  
...  
Keyword(s):  
Glioblastoma Multiforme ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis

Long-term survival of a patient with giant cell glioblastoma

2001 ◽  
Vol 94 (4) ◽  
pp. 605-611 ◽  
Author(s):  
Michael Sabel ◽  
Julia Reifenberger ◽  
Ruthild G. Weber ◽  
Guido Reifenberger ◽  
Horst P. Schmitt
Keyword(s):  
Giant Cell ◽  
Tumor Cells ◽  
Postoperative Radiotherapy ◽  
Molecular Genetic ◽  
Tumor Resection ◽  
Molecular Genetic Analysis ◽  
Comparative Genomic ◽  
Term Survival ◽  
Content Type ◽  
Giant Cell Glioblastoma

✓ The authors report on a patient who had undergone resection of a left-sided temporal giant cell glioblastoma at the age of 69 years and who survived for more than 17 years. This man had not undergone postoperative radiotherapy or adjuvant chemotherapy. He died at the age of 86 years without clinical evidence of tumor recurrence. Histologically, the lesion was characterized by highly pleomorphic tumor cells (including bizarre multinucleated giant cells) with high mitotic activity, large necroses, and prominent mononuclear infiltration. A point mutation in the TP53 tumor suppressor gene (c.524G>A: R175H) and no epidermal growth factor receptor gene amplification were revealed on molecular genetic analysis. No diagnostic chromosomal imbalances were identified on comparative genomic hybridization, although the average ratio profile for chromosome 10 indicated loss of 10p15 in a subpopulation of tumor cells. This patient is exceptional because tumor resection, probably in conjunction with a marked antitumor immune response, apparently resulted in eradication of the lesion.

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