scholarly journals Gastrointestinal Mesenchymal Neoplasms other than Gastrointestinal Stromal Tumors: Focusing on Their Molecular Aspects

2011 ◽  
Vol 2011 ◽  
pp. 1-10 ◽  
Author(s):  
Thomas P. Plesec
Keyword(s):  
Molecular Pathology ◽  
Current Knowledge ◽  
Clear Cell Sarcoma ◽  
Response To Therapy ◽  
Gi Tract ◽  
Mesenchymal Tumors ◽  
Mesenchymal Neoplasms ◽  
Pathologic Features ◽  
Fibroid Polyp ◽  
Molecular Aspects

Gastrointestinal (GI) mesenchymal tumors other than gastrointestinal stromal tumor (GIST) are rare neoplasms, but they often enter the differential diagnosis of more common GI lesions. Some of these mesenchymal tumors in the GI tract have well understood molecular pathologic aspects, including desmoid tumors, inflammatory myofibroblastic tumor (IMT), clear cell sarcoma (CCS), inflammatory fibroid polyp (IFP), and synovial sarcoma (SS). Molecular pathology is fast becoming a mainstream focus in laboratories because it aids in the precise classification of tumors, may be prognostic, and may help predict response to therapy. The following review is not intended as an exhaustive summary of all mesenchymal tumors that have been reported to involve the GI tract, but instead will highlight the current knowledge of the most important non-GIST GI mesenchymal neoplasms, focusing on those tumors with well-characterized molecular pathology and how the molecular pathologic features impact current diagnostic, therapeutic, and prognostic standards.

scholarly journals Malignant solitary fibrous tumor of urinary bladder: A rare clinical entity

2019 ◽  
Vol 91 (2) ◽  
Author(s):  
Zisis Kratiras ◽  
Vasileios Spapis ◽  
Efthymios Koniaris ◽  
Diomidis Kozyrakis ◽  
Konstantinos Skriapas
Keyword(s):  
Urinary Bladder ◽  
Spindle Cell ◽  
Signs And Symptoms ◽  
Biological Behavior ◽  
Mesenchymal Tumors ◽  
Mesenchymal Neoplasms ◽  
Large Size ◽  
Pathologic Features ◽  
Complete Surgical Resection ◽  
Fibrous Tumor

Solitary Fibrous Tumors (SFTs) are mesenchymal tumors occurring in several sites. Urinary bladder SFTs are quite rare. Eighteen cases are described in the literature and only two of them had malignant features. SFTs comprise a histologic spectrum of mesenchymal neoplasms that show fibroblastic differentiation. The signs and symptoms are non specific. Immunohistochemistry plays a pivotal role in the diagnosis, differentiating SFTs from other spindle cell mesenchymal tumors. Malignant criteria are considered the large size, increased mitotic activity, focal necrosis or hemorrhage, nuclear atypia, hypercellularity and infiltrative margins. Clinical and biological behavior of bladder SFTs is usually not aggressive but cannot be safely predicted based on the pathologic features. Complete surgical resection is the cornerstone of treatment. We present the third bladder SFT case with malignant features and a mini literature review.

Unusual Mesenchymal Tumors of the Lower Gastrointestinal Tract: When You Hear Hoofbeats in the Night, Do Not Forget the Zebras

Pathobiology ◽  
2021 ◽  
pp. 1-9
Author(s):  
Marco Barella ◽  
Gianluca Lopez ◽  
Stefano Ferrero ◽  
Maurizio Vecchi ◽  
Paolo Cantù ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Spindle Cell ◽  
Case Series ◽  
Screening Colonoscopy ◽  
Gi Tract ◽  
Mesenchymal Tumors ◽  
Case Presentation ◽  
Smooth Muscle Tumors ◽  
Fibroid Polyp ◽  
Immunohistochemical Analyses

<b><i>Introduction:</i></b> Little information about clinical presentation of mesenchymal tumors of the lower gastrointestinal (GI) tract due to their extreme heterogeneity is available for clinical management. Usually, small solitary asymptomatic polyps are accidently found during a screening colonoscopy performed for hematochezia, abdominal pain, constipation, diarrhea, and bowel obstruction. In this case series, we illustrate our experience with mesenchymal tumors of the lower GI tract, which are a group of unusual and quite challenging lesions. <b><i>Case Presentation:</i></b> We retrospectively collected mesenchymal tumors of the lower GI tract in our institution (Fondazione IRCSS Ca’ Granda – Ospedale Maggiore Policlinico di Milano) during the last 10 years. We reviewed the histological slides, and, when necessary, we performed immunohistochemical analyses to better characterize the tumors. A total of 99 cases were identified: 45 GISTs, 42 lipomas, 4 leiomyomas, 3 Kaposi sarcomas, 1 schwannoma, 1 ganglioneuroma, 1 hemangioma, 1 inflammatory fibroid polyp, and 1 challenging case of spindle cell melanoma. We focused on the most rare entities excluding therefore all GISTs and lipomas from re-evaluation. <b><i>Conclusion:</i></b> Mesenchymal tumors of the lower GI tract represent a highly heterogeneous group of lesions encompassing GISTs, lipomas, smooth muscle tumors (leiomyoma and leiomyosarcoma), GI schwannomas, inflammatory fibroid polyps, solitary fibrous tumors, and other unusual spindle cell tumors. Immunohistochemistry and, in selected cases, molecular biology remain a useful tool which, in addition to a meticulous study of the morphology, helps the pathologist in the tangled jungle of differential diagnosis.

scholarly journals Predictors and Early Markers of Response to Biological Therapies in Inflammatory Bowel Diseases

2021 ◽  
Vol 10 (4) ◽  
pp. 853
Author(s):  
Giuseppe Privitera ◽  
Daniela Pugliese ◽  
Gian Ludovico Rapaccini ◽  
Antonio Gasbarrini ◽  
Alessandro Armuzzi ◽  
...  
Keyword(s):  
Inflammatory Bowel Diseases ◽  
Current Knowledge ◽  
Real Life ◽  
Response To Therapy ◽  
Significant Heterogeneity ◽  
Intestinal Damage ◽  
Biological Therapies ◽  
Early Markers ◽  
Bowel Diseases ◽  
Inflammatory Bowel

Inflammatory bowel diseases (IBD) are chronic conditions that primarily affect the gastrointestinal tract, with a complex pathogenesis; they are characterized by a significant heterogeneity of clinical presentations and of inflammatory pathways that sustain intestinal damage. After the introduction of the first biological therapies, the pipeline of therapies for IBD has been constantly expanding, and a significant number of new molecules is expected in the next few years. Evidence from clinical trials and real-life experiences has taught us that up to 40% of patients do not respond to a specific drug. Unfortunately, to date, clinicians lack a valid tool that can predict each patient’s response to therapies and that could help them in choosing what drug to administer. Several candidate biomarkers have been investigated so far, with conflicting results: clinical, genetic, immunological, pharmacokinetic and microbial markers have been tested, but no ideal marker has been identified so far. Based on recent evidence, multiparametric models seemingly hold the greatest potential for predicting response to therapy. In this narrative review, we aim to summarize the current knowledge on predictors and early markers of response to biological therapies in IBD.

Mammalian mitochondrial translation — revealing consequences of divergent evolution

2019 ◽  
Vol 47 (5) ◽  
pp. 1429-1436 ◽  
Author(s):  
Rawaa A. Z. Al-Faresi ◽  
Robert. N. Lightowlers ◽  
Zofia M. A. Chrzanowska-Lightowlers
Keyword(s):  
Common Ancestor ◽  
Current Knowledge ◽  
Eukaryotic Cells ◽  
Divergent Evolution ◽  
Mitochondrial Translation ◽  
Complete Understanding ◽  
Genetic Origin ◽  
Cryo Electron Microscopy ◽  
Encoded Proteins ◽  
Molecular Aspects

Abstract Mitochondria are ubiquitous organelles present in the cytoplasm of all nucleated eukaryotic cells. These organelles are described as arising from a common ancestor but a comparison of numerous aspects of mitochondria between different organisms provides remarkable examples of divergent evolution. In humans, these organelles are of dual genetic origin, comprising ∼1500 nuclear-encoded proteins and thirteen that are encoded by the mitochondrial genome. Of the various functions that these organelles perform, it is only oxidative phosphorylation, which provides ATP as a source of chemical energy, that is dependent on synthesis of these thirteen mitochondrially encoded proteins. A prerequisite for this process of translation are the mitoribosomes. The recent revolution in cryo-electron microscopy has generated high-resolution mitoribosome structures and has undoubtedly revealed some of the most distinctive molecular aspects of the mitoribosomes from different organisms. However, we still lack a complete understanding of the mechanistic aspects of this process and many of the factors involved in post-transcriptional gene expression in mitochondria. This review reflects on the current knowledge and illustrates some of the striking differences that have been identified between mitochondria from a range of organisms.

Multifocal, Extranodal Sinus Histiocytosis With Massive Lymphadenopathy: An Overview

2007 ◽  
Vol 131 (7) ◽  
pp. 1117-1121 ◽  
Author(s):  
Sujata Gaitonde
Keyword(s):  
Current Knowledge ◽  
Clinical Manifestations ◽  
Patient Characteristics ◽  
Sinus Histiocytosis ◽  
Massive Lymphadenopathy ◽  
Immune Mediated ◽  
Pathologic Features ◽  
Extranodal Disease ◽  
Children And Young Adults ◽  
Histopathologic Features

Abstract Context.—This article provides an overview of the major pathologic manifestations of sinus histiocytosis with massive lymphadenopathy, including patient characteristics and current knowledge about its pathogenesis, with an emphasis on multifocal and extranodal presentation. Sinus histiocytosis with massive lymphadenopathy is a rare, nonneoplastic, idiopathic, proliferative histiocytic disorder; recognition of this disorder is important to avoid misinterpretation and subsequent unnecessary treatment. This is especially true for primary extranodal manifestation of this rare disorder. Although accurate diagnosis of this entity requires a correlation of clinical, radiologic, laboratory, and pathologic studies in most cases, it remains a disorder primarily defined by its histopathologic features and pathologic manifestations, which are key to the diagnosis. Objective.—To summarize the scientific literature, provide a concise review, and emphasize the diagnostic histopathologic features of extranodal sinus histiocytosis with massive lymphadenopathy. Data Sources.—A comprehensive literature review was undertaken to summarize the clinical and pathologic features of this disorder. Conclusions.—Sinus histiocytosis with massive lymphadenopathy is characterized by a rare, acquired, nonmalignant proliferation of distinctive histiocytes that present with lymphadenopathy or extranodal disease, primarily in children and young adults. It exhibits a broad range of clinical presentations, thus eliciting a wide differential diagnosis. The diverse clinical manifestations and frequent association with subtle or severe immunologic abnormalities suggest an immune-mediated cause. Additional studies are needed to characterize the interplay between death receptors and cytotoxic mediators and to further elucidate the loss of immune hemostasis that may underlie idiopathic histiocytic proliferations such as this.

Clear Cell Sarcoma of Tendons and Aponeuroses: A Review

2007 ◽  
Vol 131 (1) ◽  
pp. 152-156 ◽  
Author(s):  
Daniel C. Dim ◽  
Linda D. Cooley ◽  
Roberto N. Miranda
Keyword(s):  
Clear Cell ◽  
Current Knowledge ◽  
S100 Protein ◽  
Clear Cell Sarcoma ◽  
Prognostic Indicators ◽  
Gene Transcript ◽  
Poor Overall Survival ◽  
Regional Lymph Nodes ◽  
Cell Sarcoma ◽  
Eosinophilic Cytoplasm

Abstract Clear cell sarcoma of tendons and aponeuroses, also referred to as malignant melanoma of soft parts, is a rare malignancy derived from neural crest cells. It usually presents in the distal lower extremities of young adults, frequently attached to tendons or aponeuroses. It behaves like a high-grade soft tissue sarcoma and is associated with poor overall survival. Magnetic resonance imaging studies of the lesion reveal T1 hypointensity, T2 hyperintensity, and gadolinium uptake. Grossly, the tumor is usually circumscribed with a histologic pattern of uniform polygonal to fusiform cells with clear to pale eosinophilic cytoplasm divided into variably sized clusters by fibrous septa. Immunohistochemical studies in most cases show that the neoplastic cells are positive with HMB-45 and react with antibody against S100 protein. Most cases show a reciprocal cytogenetic translocation t(12;22)(q13;q12) that creates a unique chimeric fusion EWSR1/ATF1 gene transcript. Metastasis occurs mainly to regional lymph nodes and lungs. Poor prognostic indicators include a tumor size equal to or more than 5 cm, presence of metastasis, and necrosis. The mainstay of treatment is wide excision of the tumor. The use of sentinel lymph node biopsy may become an important procedure in detecting occult regional metastasis and guiding the extent of surgery. The beneficial effects of adjuvant chemotherapy and radiotherapy have not been fully evaluated. This article provides a short overview of the current knowledge of clear cell sarcoma of tendons and aponeuroses.

scholarly journals The importance of molecular biology in development, prognosis, treatment and resistance to targeted therapy in gastrointestinal stromal tumors

2011 ◽  
pp. 69-79
Author(s):  
Alessandro Comandone ◽  
Elisa Berno ◽  
Simona Chiadò Cutin ◽  
Antonella Boglione
Keyword(s):  
Tyrosine Kinase ◽  
Gastrointestinal Stromal Tumors ◽  
Kinase Inhibitors ◽  
Growth Factor Receptor ◽  
Neoplastic Transformation ◽  
Response To Therapy ◽  
Mesenchymal Tumors ◽  
Kit Mutation ◽  
Stromal Tumors ◽  
Receive Treatment

Gastrointestinal stromal tumors (GISTs) are the commonest mesenchymal tumors of the gastroenteric tract, and are generally believed to originate from the neoplastic transformation of the interstitial cells of Cajal, the pacemaker structures of the stomach and intestine. Exon and genetic mutations (point/deletions) are fundamental for the development of GISTs: the constitutional characteristic of this neoplasm is the presence of the cell surface Kit receptor. Kit is the product of the proto-oncogene cKit, situated in chromosome 4. Ninety-eight percent of GISTs express mutated isoforms of Kit or of PDGFRA (Platelet growth factor receptor a). Kit mutation is the basic condition for autophosphorylation of tyrosine kinase residues in proteins. Autophosphorylation initiates pathogenetic processes in Cajal cells, toward a neoplastic transformation. Imatinib mesilate and, more recently, sunitinib are tyrosine kinase inhibitors, specific antagonists for Kit and PDGFRA, with good activity against GISTs. Most molecular and clinical data currently available concern imatinib. Exon mutations are strategic as prognostic and as predictive factors. In recent years, much evidence suggests that survival, response to therapy and resistance to imatinib are related to different mutations. In the near future, GIST patients will receive treatment differentiated by expressed Kit and PDGFRA mutations, thus truly individualized therapy.

scholarly journals Molecular pathogenetic aspects in the diagnosis of thyroid cancer

1995 ◽  
Vol 41 (6) ◽  
pp. 42-47
Author(s):  
Ye. A. Troshina ◽  
G. A. Gerasimov ◽  
G. F. Alexandrova
Keyword(s):  
Thyroid Cancer ◽  
Nuclear Power ◽  
Current Knowledge ◽  
Malignant Neoplasms ◽  
X Ray ◽  
Tumor Diseases ◽  
Exogenous Factors ◽  
Molecular Aspects ◽  
The One ◽  
Diagnosis Of Thyroid Cancer

Thyroid cancer accounts for 1 - 1.5% of all malignant neoplasms. In recent years, there has been a trend towards an increase in the prevalence of this disease. On the one hand, the frequency of detection of thyroid cancer is associated with the introduction of a number of modern methods of examining patients and the increased oncological alertness of doctors. On the other hand, there is evidence of an increase in the incidence of thyroid cancer associated with an unfavorable environmental situation. An example of this is an increase in the frequency of thyroid damage in people exposed to radiation after the accident at the Chernobyl nuclear power plant. There is evidence that in Japan, thyroid cancer is detected 10 times more often among the population that has undergone nuclear bombing than among other residents of the country. Exogenous risk factors include external x-ray irradiation, previously carried out for medical purposes for various benign and non-tumor diseases of the head and neck. It is believed that exogenous factors are able to more or less affect the thyroid gland and cause a number of molecular changes in it that lead to the development of cancer. The purpose of this review was to summarize the current knowledge of the molecular aspects of thyroid cancer.

Integration of silicon and secondary metabolites in plants: a significant association in stress tolerance

2020 ◽  
Vol 71 (21) ◽  
pp. 6758-6774 ◽  
Author(s):  
Mohammad Abass Ahanger ◽  
Javaid Akhter Bhat ◽  
Manzer H Siddiqui ◽  
Jörg Rinklebe ◽  
Parvaiz Ahmad
Keyword(s):  
Secondary Metabolites ◽  
Stress Tolerance ◽  
Secondary Metabolism ◽  
Abiotic Stresses ◽  
Current Knowledge ◽  
Pathogen Resistance ◽  
Molecular Aspects ◽  
Nitrogen Containing Compounds ◽  
Sessile Organisms ◽  
Physiological And Biochemical

Abstract As sessile organisms, plants are unable to avoid being subjected to environmental stresses that negatively affect their growth and productivity. Instead, they utilize various mechanisms at the morphological, physiological, and biochemical levels to alleviate the deleterious effects of such stresses. Amongst these, secondary metabolites produced by plants represent an important component of the defense system. Secondary metabolites, namely phenolics, terpenes, and nitrogen-containing compounds, have been extensively demonstrated to protect plants against multiple stresses, both biotic (herbivores and pathogenic microorganisms) and abiotic (e.g. drought, salinity, and heavy metals). The regulation of secondary metabolism by beneficial elements such as silicon (Si) is an important topic. Silicon-mediated alleviation of both biotic and abiotic stresses has been well documented in numerous plant species. Recently, many studies have demonstrated the involvement of Si in strengthening stress tolerance through the modulation of secondary metabolism. In this review, we discuss Si-mediated regulation of the synthesis, metabolism, and modification of secondary metabolites that lead to enhanced stress tolerance, with a focus on physiological, biochemical, and molecular aspects. Whilst mechanisms involved in Si-mediated regulation of pathogen resistance via secondary metabolism have been established in plants, they are largely unknown in the case of abiotic stresses, thus leaving an important gap in our current knowledge.

scholarly journals Vitamin K as a Powerful Micronutrient in Aging and Age-Related Diseases: Pros and Cons from Clinical Studies

2019 ◽  
Vol 20 (17) ◽  
pp. 4150 ◽  
Author(s):  
Dina C. Simes ◽  
Carla S. B. Viegas ◽  
Nuna Araújo ◽  
Catarina Marreiros
Keyword(s):  
Vitamin K ◽  
Cardiovascular Health ◽  
Current Knowledge ◽  
Health Benefit ◽  
Nuclear Factor Κb ◽  
Protective Role ◽  
Age Related ◽  
Mineralization Processes ◽  
Pros And Cons ◽  
Molecular Aspects

Vitamin K is a multifunctional micronutrient implicated in age-related diseases such as cardiovascular diseases, osteoarthritis and osteoporosis. Although vitamin K-dependent proteins (VKDPs) are described to have a crucial role in the pathogenesis of these diseases, novel roles have emerged for vitamin K, independently of its role in VKDPs carboxylation. Vitamin K has been shown to act as an anti-inflammatory by suppressing nuclear factor κB (NF-κB) signal transduction and to exert a protective effect against oxidative stress by blocking the generation of reactive oxygen species. Available clinical evidences indicate that a high vitamin K status can exert a protective role in the inflammatory and mineralization processes associated with the onset and progression of age-related diseases. Also, vitamin K involvement as a protective super-micronutrient in aging and ‘inflammaging’ is arising, highlighting its future use in clinical practice. In this review we summarize current knowledge regarding clinical data on vitamin K in skeletal and cardiovascular health, and discuss the potential of vitamin K supplementation as a health benefit. We describe the clinical evidence and explore molecular aspects of vitamin K protective role in aging and age-related diseases, and its involvement as a modulator in the interplay between pathological calcification and inflammation processes.

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