Three Novel Aberrations Involving PLAG1 Leading to Lipoblastoma in Three Different Patients: High Amplification, Partial Deletion, and a Unique Complex Rearrangement

2019 ◽  
Vol 159 (2) ◽  
pp. 81-87 ◽  
Author(s):  
Guoliang Wang ◽  
Miguel A. Guzman ◽  
Jacqueline R. Batanian
Keyword(s):  
Benign Neoplasm ◽  
Chromosome 8 ◽  
Retroperitoneal Mass ◽  
Partial Deletion ◽  
Genetic Aberrations ◽  
Complex Rearrangement ◽  
Promoter Swapping ◽  
High Level ◽  
Lipomatous Tumors

Lipoblastoma is a rare benign neoplasm with overlapping histology with other lipomatous tumors. Genetic aberrations including translocations of 8q and splitting of the PLAG1 probe leading to “promoter swapping” and gains of chromosome 8 or PLAG1 foci have been described in lipoblastoma. Here, we report 3 lipoblastomas revealing novel genetic aberrations involving PLAG1: a high level of PLAG1 amplification up to 50 copies in a 4-year-old girl with recurrence of a right flank mass, a partial deletion of PLAG1 with the flanking junction breakpoints involving the 3′PLAG1 and 5′HAS2 genes in a 17-month-old boy with a retroperitoneal mass, and an insertion of 2q31 into 8q11.2 and translocation of 8q to 2q with the latter translocated onto 12q leading to separation of the PLAG1 FISH probe in a 5-year-old girl with a left back mass. Our novel cytogenetic findings further expand the mechanisms of PLAG1 transcriptional upregulation in lipoblastoma pathogenesis.

scholarly journals DYSMORPHIC SYNDROME, SPHEROCYTOSIS AND PARTIAL DELETION OF THE SHORT ARM OF CHROMOSOME 8

1984 ◽  
Vol 18 ◽  
pp. 220A-220A
Author(s):  
Robert R Chilcote ◽  
Barbara Jones ◽  
Carlton Dampier ◽  
Michelle Lebeau ◽  
Janet Rowley ◽  
...  
Keyword(s):  
Chromosome 8 ◽  
Partial Deletion ◽  
Dysmorphic Syndrome

Genetic Aberrations of NAT2 and Chromosome 8: Their Association with Progression in Transitional Cell Carcinoma of the Urinary Bladder

2001 ◽  
Vol 67 (3) ◽  
pp. 235-239 ◽  
Author(s):  
A.D. Watters ◽  
M.W. Stacey ◽  
J.J. Going ◽  
K.M. Grigor ◽  
T.G. Cooke ◽  
...  
Keyword(s):  
Urinary Bladder ◽  
Transitional Cell Carcinoma ◽  
Cell Carcinoma ◽  
Transitional Cell ◽  
Chromosome 8 ◽  
Genetic Aberrations

Genetic aberrations on the short arm of chromosome 8 (8p) in tongue carcinomas

2012 ◽  
Vol 38 (2) ◽  
pp. 121
Author(s):  
Akiyuki Murano ◽  
Kanae Ono ◽  
Hirofumi Koike ◽  
Yosuke Endo ◽  
Ken Shimada ◽  
...  
Keyword(s):  
Chromosome 8 ◽  
Genetic Aberrations

Molecular panel sequencing of pre-treatment samples to reveal mechanisms of innate resistance to 3rd generation EGFR TKI treatment in T790M-positive NSCLC patients.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 9041-9041
Author(s):  
Sebastian Yves Friedrich Michels ◽  
Carina Heydt ◽  
Barbara Deschler-Baier ◽  
Vanessa Ruesseler ◽  
Jan Stratmann ◽  
...  
Keyword(s):  
Acquired Resistance ◽  
Response To Treatment ◽  
Ras Gene ◽  
Early Generation ◽  
Systematic Analysis ◽  
Genetic Aberrations ◽  
Egfr Inhibition ◽  
Pre Treatment ◽  
High Level ◽  
Egfr Tkis

9041 Background: Resistance to early generation epidermal growth factor receptor ( EGFR) tyrosine kinase inhibitors (TKI) inevitably develops in EGFR-mutant lung cancer. The secondary EGFR p.T790M mutation is the driving factor in 60% of cases and 3rd generation EGFR TKIs have been developed to overcome T790M-mediated resistance. However, besides T790M other genetic aberrations such as amplifications of MET may contribute to resistance to EGFR inhibition in the same patient. We here report on the systematic analysis of co-occurring genetic aberrations that may influence response to 3rd generation EGFR TKIs. Methods: Thirty-six patients were treated with 3rd generation EGFR TKIs in the setting of acquired resistance to EGFR inhibition in cancer centers in Germany and Switzerland. Pre-treatment samples were analyzed for co-occurring genetic aberrations in a subset of resistance-related genes including MET, HER2, RAS-gene family, PIK3CA, CTNNB1 and PTEN using next-generation sequencing and fluorescence in-situ hybridization assays. We investigated the association between clinical, epidemiological and molecular data and response to treatment (RECIST 1.1). Results: Co-occurring genetic aberrations were found in 68% of the pre-treatment samples where both, analyses by sequencing and FISH were feasible (N = 25). Efficacy of 3rd generation EGFR TKIs significantly dropped in the presence of high-level MET amplification as compared to wild-type MET (ORR, 0.0%; 95% CI, 0.0-60.4 vs. 70.0%; 95% CI, 45.7-87.2; p = 0.02; median PFS, 1.0 month; 95% CI, 0.37-1.72 months vs. 8.2 months; 95% CI, 1.69-14.77 months; p ≤ 0.001). No statistically significant association was found between treatment efficacy and the molecular status of the genes analyzed or the number of prior EGFR TKIs. Conclusions: Prevalence of additional genetic aberrations is frequent in the setting of acquired resistance to early generation EGFR TKIs and may not necessarily mediate resistance to 3rd generation EGFR TKIs. However, in our analysis high-level amplification of MET was associated with primary treatment failure and might be the main factor underlying resistance in this setting.

scholarly journals Partial Deletion of Chromosome 8 β-defensin Cluster Confers Sperm Dysfunction and Infertility in Male Mice

PLoS Genetics ◽  
2013 ◽  
Vol 9 (10) ◽  
pp. e1003826 ◽  
Author(s):  
Yu S. Zhou ◽  
Sheila Webb ◽  
Laura Lettice ◽  
Steve Tardif ◽  
Fiona Kilanowski ◽  
...  
Keyword(s):  
Chromosome 8 ◽  
Male Mice ◽  
Partial Deletion ◽  
Sperm Dysfunction

scholarly journals Genetic aberrations on the short arm of chromosome 8 (8p) in tongue carcinomas

2008 ◽  
Vol 54 (6) ◽  
pp. 374-380
Author(s):  
Akiyuki MURANO ◽  
Kanae ONO ◽  
Hirofumi KOIKE ◽  
Yosuke ENDO ◽  
Ken SHIMADA ◽  
...  
Keyword(s):  
Chromosome 8 ◽  
Genetic Aberrations

Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation

2004 ◽  
Vol 106 (1) ◽  
pp. 55-60 ◽  
Author(s):  
U. Felbor ◽  
N. Knötgen ◽  
G. Schams ◽  
A. Buwe ◽  
C. Steinlein ◽  
...  
Keyword(s):  
Psychomotor Retardation ◽  
Chromosome 8 ◽  
Complex Rearrangement

Transcription factor/DNA interactions visualized by electron spectroscopic imaging

1992 ◽  
Vol 50 (1) ◽  
pp. 450-451
Author(s):  
David P. Bazett-Jones ◽  
Mark L. Brown
Keyword(s):  
Transcription Factor ◽  
Dna Sequences ◽  
Transcription Initiation ◽  
Molecular Mechanisms ◽  
Phosphorus Content ◽  
Spectroscopic Imaging ◽  
Electron Spectroscopic Imaging ◽  
Dna Backbone ◽  
Two Parameters ◽  
High Level

A multisubunit RNA polymerase enzyme is ultimately responsible for transcription initiation and elongation of RNA, but recognition of the proper start site by the enzyme is regulated by general, temporal and gene-specific trans-factors interacting at promoter and enhancer DNA sequences. To understand the molecular mechanisms which precisely regulate the transcription initiation event, it is crucial to elucidate the structure of the transcription factor/DNA complexes involved. Electron spectroscopic imaging (ESI) provides the opportunity to visualize individual DNA molecules. Enhancement of DNA contrast with ESI is accomplished by imaging with electrons that have interacted with inner shell electrons of phosphorus in the DNA backbone. Phosphorus detection at this intermediately high level of resolution (≈lnm) permits selective imaging of the DNA, to determine whether the protein factors compact, bend or wrap the DNA. Simultaneously, mass analysis and phosphorus content can be measured quantitatively, using adjacent DNA or tobacco mosaic virus (TMV) as mass and phosphorus standards. These two parameters provide stoichiometric information relating the ratios of protein:DNA content.

An adrenocortical oncocytoma with unusual mitochondrial inclusions and cytoplasmic crystals

1994 ◽  
Vol 52 ◽  
pp. 250-251
Author(s):  
W.T. Gunning ◽  
G.D. Haselhuhn ◽  
E.R. Phillips ◽  
S.H. Selman
Keyword(s):  
Adrenal Gland ◽  
Salivary Glands ◽  
Mitotic Activity ◽  
Diagnostic Criteria ◽  
Vascular Invasion ◽  
Benign Neoplasm ◽  
Benign Tumors ◽  
Nuclear Morphology ◽  
Case Presentation ◽  
Microscopic Evidence

Within the last few years, adrenal cortical tumors with features concordant with the diagnostic criteria attributed to oncocytomas have been reported. To date, only nine reported cases exist in the literature. This report is the tenth case presentation of a presumptively benign neoplasm of the adrenal gland with a rare differentiation. Oncocytomas are well recognized benign tumors of the thyroid, parathyroid, and salivary glands and of the kidney. Other organs also give rise to these types of tumors, however with less frequency than the former sites. The characteristics generally used to classify a tumor as an oncocytoma include the following criteria: the tumor is 1) usually a solitary circumscribed mass with no gross nor microscopic evidence of metastasis (no tissue nor vascular invasion), 2) fairly bland in terms of mitotic activity and nuclear morphology, and 3) composed of large eosinophillic cells in which the cytoplasm is packed full of mitochondria (Figure 1).

Advances in Stem Instrumentation for Biology

1990 ◽  
Vol 48 (1) ◽  
pp. 362-363
Author(s):  
J. S. Wall
Keyword(s):  
Scanning Transmission Electron Microscope ◽  
Carbon Films ◽  
Specimen Preparation ◽  
Material Deposition ◽  
Active User ◽  
Percent Improvement ◽  
Scanning Transmission ◽  
The Moment ◽  
Film Substrate ◽  
High Level

The forte of the Scanning transmission Electron Microscope (STEM) is high resolution imaging with high contrast on thin specimens, as demonstrated by visualization of single heavy atoms. of equal importance for biology is the efficient utilization of all available signals, permitting low dose imaging of unstained single molecules such as DNA.Our work at Brookhaven has concentrated on: 1) design and construction of instruments optimized for a narrow range of biological applications and 2) use of such instruments in a very active user/collaborator program. Therefore our program is highly interactive with a strong emphasis on producing results which are interpretable with a high level of confidence.The major challenge we face at the moment is specimen preparation. The resolution of the STEM is better than 2.5 A, but measurements of resolution vs. dose level off at a resolution of 20 A at a dose of 10 el/A2 on a well-behaved biological specimen such as TMV (tobacco mosaic virus). To track down this problem we are examining all aspects of specimen preparation: purification of biological material, deposition on the thin film substrate, washing, fast freezing and freeze drying. As we attempt to improve our equipment/technique, we use image analysis of TMV internal controls included in all STEM samples as a monitor sensitive enough to detect even a few percent improvement. For delicate specimens, carbon films can be very harsh-leading to disruption of the sample. Therefore we are developing conducting polymer films as alternative substrates, as described elsewhere in these Proceedings. For specimen preparation studies, we have identified (from our user/collaborator program ) a variety of “canary” specimens, each uniquely sensitive to one particular aspect of sample preparation, so we can attempt to separate the variables involved.

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