scholarly journals Expression of WT1 in renal rhabdoid tumors: immunohistochemistry and molecular genetics

2020 ◽  
Vol 19 (4) ◽  
pp. 88-93
Author(s):  
A. M. Mitrofanova ◽  
A. E. Druy ◽  
A. S. Sharlai ◽  
D. M. Konovalov
Keyword(s):  
Molecular Genetic ◽  
Integrated Approach ◽  
Rhabdoid Tumor ◽  
Total Loss ◽  
Morphological Data ◽  
Renal Tumors ◽  
Wt1 Gene ◽  
Nucleotide Substitutions ◽  
Kidney Tumors ◽  
Stromal Component

Renal rhabdoid tumor (RRT) is the most malignant and aggressive renal tumors in children. The results of immunohistochemistry show co-expression of epithelial and mesenchymal markers with total loss of INI1 expression in tumor cells. Aim. To determine the frequency of WT1 expression in RRT using three different clones and to investigate WT1 gene status. This study is supported by the Independent Ethics Committee and approved by the Academic Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. 28 patients with RRT were included in our study from a period 2006–2019. Immunohistochemical staining included Vimentin, panCK, CK19, EMA, INI1, CD34, WT1 (clones: polyclonal, WT49, 6FH2). Additionally, in order to evaluate genetic events known to be significant in the RRT pathogenesis, molecular genetic testing by multiplex ligase-dependent probe amplification (NGS) and next-generation sequencing (NGS) of customized gene panel were conducted in 15 cases with available material. All tumors had classical rhabdoid morphology with co-expression of epithelial and mesenchymal markers and total loss of INI1 expression. Two tumors were WT1-positive (WT49 and Polyclonal). 5 out of 15 tumors harbored different in length SMARCB1 gene deletions. 7 cases studied by NGS for nucleotide substitutions and small indels included 5 patients lacking SMARCB1 deletions based on the MLPA data and 2 cases of RRT with WT1 protein nuclear expression. All evaluated patients had pathogenic or likely-pathogenic genetic variants in genes encoding core subunits of SWI/ SNF chromatin remodeling complex (predominantly, SMARCB1 and SMARCA4 genes). No pathogenic variants were revealed in WT1 gene. The literature describes isolated cases of WT1 expression in RRT elements. Often, the cellular elements of a rhabdoid tumor after preoperative chemotherapy are regarded as elements of the stromal component of nephroblastoma, maturing into rhabdomyoblasts. In the presence of WT1 expression, these tumors are considered as nephroblastomas. In this study we showed that RRTs are molecularly heterogeneous tumors with aberrant immunophenotype. Thus, our experience proves the importance of an integrated approach to differential diagnosis and the need for routine use of the INI1 antibody in panels for the study of kidney tumors in children to avoid misinterpretation of morphological data.

New Nucleotide Polymorphisms in the BTC1 gene of Sugar Beet

2020 ◽  
Vol 36 (6) ◽  
pp. 49-54
Author(s):  
A.A. Nalbandyan ◽  
T.P. Fedulova ◽  
I.V. Cherepukhina ◽  
T.I. Kryukova ◽  
N.R. Mikheeva ◽  
...  
Keyword(s):  
Sugar Beet ◽  
Flowering Time ◽  
Molecular Genetic ◽  
Bioinformatic Analysis ◽  
Early Flowering ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Substitutions ◽  
Time Control ◽  
Flowering Time Control ◽  
Exon 10

The flowering time control gene of various sugar beet plants has been studied. The BTC1 gene is a regulator for the suppressor (flowering time 1) and inducer (flowering time 2) genes of this physiological process. The F9/R9 primer pair was used for polymerase chain reaction; these primers are specific to the BTC1 gene region containing exon 9, as well as intron and exon 10. For the first time, nucleotide substitutions in exon 10 of BTC1 gene were identified in bolting sensitive samples (HF1 and BF1), which led to a change in the amino acid composition of the coded polypeptide chain. Based on the results of bioinformatic analysis, it can be assumed that certain nucleotide polymorphisms in the BTC1 gene may determine with a high probability the predisposition of sugar beet genotypes to early flowering. The use of the Geneious Prime tool for the analysis of the BTC1 gene sequences may allow the culling of genotypes prone to early flowering at early stages of selection. sugar beet, flowering gene, BTC1, genetic polymorphism, PCR, molecular genetic markers, selection

scholarly journals Bilateral Renal Tumors in Children: The First 5 Years’ Experience of National Centralization in The Netherlands and a Narrative Review of the Literature

2021 ◽  
Vol 10 (23) ◽  
pp. 5558
Author(s):  
Sophie E. van Peer ◽  
Janna A. Hol ◽  
Alida F. W. van der Steeg ◽  
Martine van Grotel ◽  
Godelieve A. M. Tytgat ◽  
...  
Keyword(s):  
Renal Tumor ◽  
Relevant Literature ◽  
Renal Tumors ◽  
Chemotherapy Response ◽  
Review Of The Literature ◽  
Kidney Tumors ◽  
Tumor Patients ◽  
Nephron Sparing ◽  
Expert Center ◽  
National Expert

Survival of unilateral Wilms tumors (WTs) is exceeding 90%, whereas bilateral WTs have an inferior outcome. We evaluated all Dutch patients with bilateral kidney tumors, treated in the first five years of national centralization and reviewed relevant literature. We identified 24 patients in our center (2015–2020), 23 patients had WT/nephroblastomatosis and one renal cell carcinoma. Patients were treated according to SIOP-RTSG protocols. Chemotherapy response was observed in 26/34 WTs. Nephroblastomatosis lesions were stable (n = 7) or showed response (n = 18). Nephron-sparing surgery was performed in 11/22 patients undergoing surgery (n = 2 kidneys positive margins). Local stage in 20 patients with ≥1 WT revealed stage I (n = 7), II (n = 4) and III (n = 9). Histology was intermediate risk in 15 patients and high risk in 5. Three patients developed a WT in a treated nephroblastomatosis lesion. Two of 24 patients died following toxicity and renal failure, i.e., respectively dialysis-related invasive fungal infection and septic shock. Genetic predisposition was confirmed in 18/24 patients. Our literature review revealed that knowledge is scarce on bilateral renal tumor patients with metastases and that radiotherapy seems important for local stage III patients. Bilateral renal tumors are a therapeutic challenge. We describe management and outcome in a national expert center and summarized available literature, serving as baseline for further improvement of care.

Integrative Taxonomy of Australian Metopia (Sarcophagidae: Miltogramminae) Reveals a New Species and Challenges Traditional Phylogeny

2020 ◽  
Vol 4 (6) ◽  
Author(s):  
Nikolas P Johnston ◽  
James F Wallman ◽  
Thomas Pape
Keyword(s):  
Phylogenetic Analysis ◽  
Species Complex ◽  
Molecular Phylogenetics ◽  
Taxonomic Revision ◽  
Integrated Approach ◽  
Integrative Taxonomy ◽  
Morphological Data ◽  
Australian Species ◽  
A New Species ◽  
Generic Relationships

Abstract A taxonomic revision of all Australian species of Metopia Meigen (Sarcophagidae: Miltogramminae) is completed using an integrated approach combining molecular and morphological data. Metopia nudibasis (Malloch) is redescribed as a species complex and a new endemic Australian species, Metopia sputnik sp. n., is described. Evidence is presented that Metopia sauteri (Townsend) is absent from Australia and this species is therefore removed from the known Australian fauna. Molecular phylogenetics is used to reconstruct interspecific and generic relationships and support morphology-based species hypotheses. Phylogenetic analysis splits Metopia Meigen into two clades, separated by Aenigmetopia Malloch, rendering the former genus nonmonophyletic. The implications of this are discussed.

Genetic relationships among napiergrass (Pennisetum purpureum Schum.) nursery accessions using AFLP markers

2009 ◽  
Vol 8 (1) ◽  
pp. 63-70 ◽  
Author(s):  
Karen Harris ◽  
William Anderson ◽  
Ravindra Malik
Keyword(s):  
Genetic Relatedness ◽  
Pennisetum Glaucum ◽  
Genetic Relationships ◽  
Molecular Genetic ◽  
Perennial Grass ◽  
Morphological Data ◽  
Pennisetum Purpureum ◽  
Group Method ◽  
Heterotic Groups ◽  
Arithmetic Average

Pennisetum purpureum Schum. (napiergrass) is a perennial grass used for forage especially in South America and Africa. Over the last 30 years, a USDA–ARS nursery containing accessions collected from all over the world has been established in Tifton, Georgia. The study reported here was conducted to assess the molecular genetic variation and genetic relatedness among 89 accessions from the Tifton nursery using amplified fragment length polymorphism markers, morphological data and ploidy level. Using 218 polymorphic markers from eight selective primer combinations, the 89 accessions were clustered into five groups using a principal components analysis and a dendrogram based on Dice similarity estimates and unweighted pair group method with arithmetic average clustering. These five groups include three groups collected from Kenya, a group from Puerto Rico, and accessions derived from the cultivar Merkeron. This research provides the first molecular characterization of the Tifton nursery, displays the relationships between accessions, and provides potential heterotic groups for napiergrass and pearl millet (Pennisetum glaucum (L.) R. Br.) breeding improvement.

Molecular genetic alterations and gene expression profile of a malignant rhabdoid tumor of the kidney

2005 ◽  
Vol 163 (2) ◽  
pp. 130-137 ◽  
Author(s):  
Toshihito Nagata ◽  
Yasuo Takahashi ◽  
Yukimoto Ishii ◽  
Satoshi Asai ◽  
Megumi Sugahara-Kobayashi ◽  
...  
Keyword(s):  
Gene Expression ◽  
Gene Expression Profile ◽  
Expression Profile ◽  
Molecular Genetic ◽  
Genetic Alterations ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor

scholarly journals An integrated method for taxonomic identif ication of microorganisms

2020 ◽  
Vol 24 (4) ◽  
pp. 376-382
Author(s):  
Yu. E. Uvarova ◽  
A. V. Bryanskaya ◽  
A. S. Rozanov ◽  
V. N. Shlyakhtun ◽  
E. A. Demidov ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Integrated Approach ◽  
Visual Observation ◽  
Phenotypic Characteristics ◽  
Rna Molecules ◽  
Integrated Method ◽  
Observation Methods ◽  
Genetic Techniques ◽  
Artificial Classification ◽  
Genotypic Characteristics

For accurate species-level identification of microorganisms, researchers today increasingly use a combination of standard microbiological cultivation and visual observation methods with molecular biological and genetic techniques that help distinguish between species and strains of microorganisms at the level of DNA or RNA molecules. The aim of this work was to identify microorganisms from the ICG SB RAS Collection using an integrated approach that involves a combination of various phenotypic and genotypic characteristics. Key molecular-genetic and phenotypic characteristics were determined for 93 microbial strains from the ICG SB RAS Collection. The strains were characterized by means of morphological, physiological, moleculargenetic, and mass-spectrometric parameters. Specific features of the growth of the strains on different media were determined, and cell morphology was evaluated. The strains were tested for the ability to utilize various substrates. The strains studied were found to significantly differ in their biochemical characteristics. Physiological characteristics of the strains from the collection were identified too, e. g., the relationship with oxygen, type of nutrition, suitable temperature and pH ranges, and NaCl tolerance. In this work, the microorganisms analyzed were combined into separate groups based on the similarities of their phenotypic characteristics. This categorization, after further refinement and expansion of the spectrum of taxa and their metabolic maps, may serve as the basis for the creation of an “artificial” classification that can be used as a key for simplified and quicker identification and recognition of microorganisms within both the ICG SB RAS Collection and other collections.

scholarly journals Journeys Through Shape and Time: Palaeobiology of Cenozoic New Zealand Spissatella and Eucrassatella (Bivalvia, Crassatellidae)

2021 ◽  
Author(s):  
◽  
Katie Susanna Collins
Keyword(s):  
New Zealand ◽  
Taxonomic Revision ◽  
Integrated Approach ◽  
Morphological Data ◽  
Shell Shape ◽  
Shape Variation ◽  
Morphometric Data ◽  
Hard Part ◽  
Outline Shape ◽  
External Shell

<p>A novel, highly-integrated approach combining morphometric, stratocladistic and sclerochronological methods has been applied to two genera of New Zealand Cenozoic crassatellid bivalve (Family Crassatellidae): Spissatella Finlay, 1926 and Eucrassatella Iredale, 1924. This study builds on previous work on Spissatella that demonstrated their amenability to shape analysis and provided a foundation for evolutionary studies of the group. The taxonomy of these crassatellids has been in need of revision; a number of changes to generic placement having been proposed in recent publications without redescription. These bivalves are character-depauperate and known only from fossil material within New Zealand, making them challenging subjects for the phylogenetic analysis that would, ideally, inform taxonomic revision. Geometric morphometric methods have been used to characterise the morphological variation of the study group in terms of shape. Landmarks/semilandmarks that capture internal hard-part morphology and external shell shape, have been compared with internal landmarks only, outline shape semilandmarks only, and outline shape Fourier transform methods, and are shown to best combine comprehensive coverage of total shell form with high correct reassignment of individuals to taxa in multidimensional morphospace. Procrustes-superimposed landmark/semilandmark configurations have been ordinated using Principal Components Analysis (PCA), and PCA plots have been used to compare the shape variation of each species. The independance in morphospace of Spissatella n. sp. C from S. trailli and S. clifdenensis has been established. Covariation of internal morphology and shell-shape has been interpreted as supporting the interdependance of shell and body/mantle proposed by Stasek (1963). PCA scores have been combined with traditional morphological characters and stratigraphic data to produce a phylogenetic tree using stratocladistics, a form of parsimony-based analysis which seeks to minimise combined morphological and stratigraphic debt. This technique also assesses the placement of taxa in ancestral positions on internal nodes of the tree. Combining discretised morphometric data with stratigraphic and morphological data in a single analysis has been shown to produce a more resolved tree than analyses based only on continuous morphometric data. The new analyses demonstrate paraphyly of both Eucrassatella and Spissatella as previously recognised. A taxonomic revision of the studied taxa has been undertaken, incorporating information from both morphometric and phylogenetic studies. Spissatella subobesa and S. maudensis are referred to Eucrassatella. Spissatella discrepans is synonymised with S. acculta. Triplicitella n. gen. and S.maxwelli n. sp. are described. Oxygen isotope analysis has been employed to show that shell-banding in these species is, on average, likely to have been laid down annually. Using this information, the longitudinal dataset of outlines from Crampton & Maxwell (2000) has been recalibrated to use chronological age rather than size to compare shape across taxa, and investigate heterochrony in twelve pairs of species representing either ancestor-descendant, sister-group or lineage-segment relationships. All of the heterochronic processes sensu Gould (1977), namely progenesis, neoteny, acceleration and hypermorphosis, as well as proportioned dwarfism and proportioned gigantism, are identified as having affected evolution within this clade.</p>

scholarly journals Journeys Through Shape and Time: Palaeobiology of Cenozoic New Zealand Spissatella and Eucrassatella (Bivalvia, Crassatellidae)

2021 ◽  
Author(s):  
◽  
Katie Susanna Collins
Keyword(s):  
New Zealand ◽  
Taxonomic Revision ◽  
Integrated Approach ◽  
Morphological Data ◽  
Shell Shape ◽  
Shape Variation ◽  
Morphometric Data ◽  
Hard Part ◽  
Outline Shape ◽  
External Shell

<p>A novel, highly-integrated approach combining morphometric, stratocladistic and sclerochronological methods has been applied to two genera of New Zealand Cenozoic crassatellid bivalve (Family Crassatellidae): Spissatella Finlay, 1926 and Eucrassatella Iredale, 1924. This study builds on previous work on Spissatella that demonstrated their amenability to shape analysis and provided a foundation for evolutionary studies of the group. The taxonomy of these crassatellids has been in need of revision; a number of changes to generic placement having been proposed in recent publications without redescription. These bivalves are character-depauperate and known only from fossil material within New Zealand, making them challenging subjects for the phylogenetic analysis that would, ideally, inform taxonomic revision. Geometric morphometric methods have been used to characterise the morphological variation of the study group in terms of shape. Landmarks/semilandmarks that capture internal hard-part morphology and external shell shape, have been compared with internal landmarks only, outline shape semilandmarks only, and outline shape Fourier transform methods, and are shown to best combine comprehensive coverage of total shell form with high correct reassignment of individuals to taxa in multidimensional morphospace. Procrustes-superimposed landmark/semilandmark configurations have been ordinated using Principal Components Analysis (PCA), and PCA plots have been used to compare the shape variation of each species. The independance in morphospace of Spissatella n. sp. C from S. trailli and S. clifdenensis has been established. Covariation of internal morphology and shell-shape has been interpreted as supporting the interdependance of shell and body/mantle proposed by Stasek (1963). PCA scores have been combined with traditional morphological characters and stratigraphic data to produce a phylogenetic tree using stratocladistics, a form of parsimony-based analysis which seeks to minimise combined morphological and stratigraphic debt. This technique also assesses the placement of taxa in ancestral positions on internal nodes of the tree. Combining discretised morphometric data with stratigraphic and morphological data in a single analysis has been shown to produce a more resolved tree than analyses based only on continuous morphometric data. The new analyses demonstrate paraphyly of both Eucrassatella and Spissatella as previously recognised. A taxonomic revision of the studied taxa has been undertaken, incorporating information from both morphometric and phylogenetic studies. Spissatella subobesa and S. maudensis are referred to Eucrassatella. Spissatella discrepans is synonymised with S. acculta. Triplicitella n. gen. and S.maxwelli n. sp. are described. Oxygen isotope analysis has been employed to show that shell-banding in these species is, on average, likely to have been laid down annually. Using this information, the longitudinal dataset of outlines from Crampton & Maxwell (2000) has been recalibrated to use chronological age rather than size to compare shape across taxa, and investigate heterochrony in twelve pairs of species representing either ancestor-descendant, sister-group or lineage-segment relationships. All of the heterochronic processes sensu Gould (1977), namely progenesis, neoteny, acceleration and hypermorphosis, as well as proportioned dwarfism and proportioned gigantism, are identified as having affected evolution within this clade.</p>

Sign in / Sign up

Export Citation Format

Share Document