Molecular and genetic features of colorectal carcinoma: pathomorphological demonstration of clinical cases and literature review

Background. Colorectal carcinoma (CRC) is one of the most widespread malignancies worldwide; its morbidity rate is on the third place amidst the most common cancers. According to present data, such molecular markers as CyD1, HIF1α, LC3B, p21, p53 as well as the detection of KRAS gene amplification could be used for evaluation of tumor grade, its invasiveness, risk of metastases, sensitivity to anti-EGFR treatment, and further prognosis for patient’s survive. Objective. The purpose of this study was to make a literature review of the CRC molecular diagnostic approaches and demonstrate 5 cases of colorectal carcinoma in patients of Dnipro-city region in purpose to reveal their molecular-genetic features. Methods. Five formalin fixed paraffin embedded specimens of colorectal carcinoma from patients of Dnipro-city region were evaluated pathomorphologically with histological, immunohistochemical and fluorescence in situ hybridization methods. Results. Case study revealed increased level of p53, p21, and LC3B expression, minor elevation of CyD1 and HIF1α expression in demonstrated samples. Amplification of KRAS gene was not found. Conclusion. Our data analysis had revealed multiple studies dedicated to CRC molecular diagnostics with controversial results, what could be explained by both variable methodological approaches and epidemiological peculiarities of CRC in different sites of the globe. Therefore, there is a necessity in empirical identification of the molecular-genetic features of colorectal carcinomas in patients of our region that could improve current state of the art in CRC diagnostic and treatment approaches. Achieved data are the result of the trial and our research of this issue is ongoing.

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Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review

Journal of Clinical Lipidology ◽

10.1016/j.jacl.2019.10.001 ◽

2019 ◽

Vol 13 (6) ◽

pp. 954-959.e1

Author(s):

Chia-Wei Lee ◽

Jun-Jun Lee ◽

Yen-Feng Lee ◽

Pei-Wen Wang ◽

Tai-Long Pan ◽

...

Keyword(s):

Literature Review ◽

Molecular Genetic ◽

Cerebrotendinous Xanthomatosis ◽

Genetic Features

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NIMG-76. DISCRETE LOWER-GRADE GLIOMA (DLGG) VERSUS INFILTRATIVE LOWER-GRADE GLIOMA (ILGG): CORRELATION OF RADIOLOGICAL CHARACTERISTICS WITH CLINICAL OUTCOMES

Neuro-Oncology ◽

10.1093/neuonc/noab196.573 ◽

2021 ◽

Vol 23 (Supplement_6) ◽

pp. vi146-vi147

Author(s):

Ahsan Ali Khan ◽

Mohammad Hamza Bajwa ◽

Noman Khan ◽

Muhammad Usman Khalid ◽

Fatima Mubarak ◽

...

Keyword(s):

Clinical Outcomes ◽

Molecular Genetic ◽

Tumor Grade ◽

Molecular Genetic Analysis ◽

Vital Role ◽

Lower Grade ◽

Radiographic Appearance ◽

Patient Demographics ◽

Lower Grade Glioma ◽

Genetic Features

Abstract INTRODUCTION Lower grade gliomas encompass grade 2 and 3 tumors. However, this term is more generalized and does not include the spectrum of radiological and tumor morphological patterns seen. Here we have established two distinct patterns of radiographic appearance seen within lower grade gliomas: ILGG and DLGG. Imaging plays a vital role in diagnosis, surveillance, characterization, and monitoring of intracranial tumors. Of particular importance is the differentiation of tumor features to reliably predict malignancy, tumor grade, possible molecular or genetic features, disease progression and recurrence, potential for malignant transformation, and postoperative outcomes. Our study will look at these radiographic characteristics of diffuse and infiltrating lower grade gliomas and discuss their predictive value. Understanding the distinct nature of these varieties of LGG will help us in surgical decision-making, prognostication, biopsy target and precision medicine. METHODS Pre-operative and post-operative MRI images of Grade 2 and 3 tumors were identified and analyzed in order to extract radiographic data, and correlated with patient demographics, clinical outcomes, extent of surgical resection, and molecular genetic analysis. RESULTS Out of 35 patients evaluated, 22 (62.9%) were labeled ILGGs and 13 (37.1%) were deemed DLGGs according to the pre-defined criteria. T2 habitat was higher in ILGG (mean = 2162) than DLGG (mean = 1482) as well as size, in cm (6.02 vs. 4.92). ADC habitat, lesion ADC, and percentage of the lesion that showed contrast-enhancement were similar. T2-FLAIR mismatch was significantly higher in ILGG (p = 0.02). Post-operative KPS scores were significantly higher in the DLGG group (p = 0.03). CONCLUSION T2-FLAIR mismatch can be a significant classifier for lower-grade gliomas. Our study shows there are differences in tumor morphology of diffuse and infiltrative lower-grade gliomas which can be correlated to outcomes after surgery. *Indicates corresponding author.

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Validating a fully automated real-time PCR-based system for use in the molecular diagnostic analysis of colorectal carcinoma: a comparison with NGS and IHC

Journal of Clinical Pathology ◽

10.1136/jclinpath-2017-204356 ◽

2017 ◽

Vol 70 (7) ◽

pp. 610-614 ◽

Cited By ~ 19

Author(s):

Richard Colling ◽

Lai Mun Wang ◽

Elizabeth Soilleux

Keyword(s):

Colorectal Carcinoma ◽

Digital Pcr ◽

Molecular Diagnostic ◽

Molecular Testing ◽

Formalin Fixed Paraffin ◽

Formalin Fixed Paraffin Embedded ◽

Polymerase Chain ◽

Next Generation Sequencing Ngs ◽

Generation Sequencing ◽

Formalin Fixed

BackgroundMolecular testing is increasingly needed in colorectal carcinoma (CRC) and the current clinically relevant mutations are in BRAF, KRAS and NRAS. This study aimed to further validate a new alternative polymerase chain reaction (PCR) platform (Idylla, Biocartis) against existing next-generation sequencing (NGS) and immunohistochemistry (IHC) assays.Methods56 Idylla tests were performed on 43 CRC cases, in a total of 74 comparisons against an NGS panel (Ion Torrent) and the VE1 (anti-BRAF) antibody IHC. Discrepant cases were also compared with either conventional (Cobas) or droplet digital PCR (Bio-Rad).ResultsIdylla showed an overall concordance of 100% (95% CI 93% to 100%) with comparator molecular testing and indications were that Idylla is likely to be more sensitive than routine NGS. BRAF IHC showed 90% concordance with NGS (95% CI 70% to 97%).ConclusionsThis study validates Idylla in formalin-fixed, paraffin-embedded CRC tissue. BRAF IHC, however, is an unreliable substitute for molecular testing in CRC.

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Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes

Problems of Endocrinology ◽

10.14341/probl12746 ◽

2021 ◽

Vol 67 (3) ◽

pp. 62-67

Author(s):

N. A. Makretskaya ◽

M. V. Gerasimova ◽

E. V. Vasilyev ◽

N. A. Zubkova ◽

N. Y. Kalinchenko ◽

...

Keyword(s):

Pubertal Development ◽

Hypogonadotropic Hypogonadism ◽

Molecular Genetic ◽

Gene Mutations ◽

Molecular Diagnostic ◽

Pathogenic Variants ◽

Simultaneous Evaluation ◽

Genetic Features ◽

Biallelic Mutations ◽

Next Generation Sequencing Ngs

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH). Clinically, there are variants of CHH with hypo-/anosmia (Kalman syndrome) and normosmic hypogonadotropic hypogonadism. Given a growing list of gene mutations accounting for CHH, the application of next generation sequencing (NGS) comprises an excellent molecular diagnostic approach because it enables the simultaneous evaluation of many genes. Biallelic mutations in GNRHR gene lead to the development of hypogonadotropic hypogonadism with normosmia. In this paper, we describe 16 patients with proven GnRH resistance and estimate the frequency of pathogenic variants in the GNRHR gene in the Russian population.

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Fallopian tubes and ovarian cancer (Literature review)

HEALTH OF WOMAN ◽

10.15574/hw.2019.140.92 ◽

2019 ◽

pp. 92-95

Author(s):

D.G. Sumtsov ◽

◽

M.L. Kusyomenska ◽

G.A. Sumtsov ◽

◽

...

Keyword(s):

Ovarian Cancer ◽

Literature Review ◽

Preventive Measures ◽

Disease Incidence ◽

Molecular Genetic ◽

Serous Ovarian Cancer ◽

Fallopian Tubes ◽

Key Words Ovarian Cancer ◽

Pelvic Peritoneum ◽

Opportunistic Salpingectomy

In the literature review the authors present an analysis of the current stateproblem of ovarian cancer and ways of its possible solution. According to clinicalobservations and conducted in recent decades by morphological,immunohistochemical and molecular genetic studies it is fairly proved that theprimary cause of serous ovarian cancer is the pathology of the mucous layer offallopian tube. In the fallopian tube as a result of ciculation of inflammation andcarcinogens elements arises dysplasia of the mucosa with the development of thepreinvasive and initial invasive carcinoma with subsequent damage of the ovariesand pelvic peritoneum. Retrospective studies of a significant number of women’shealth status who had a deligation or removal of fallopian tubes in previous years showed a decrease in the disease incidence of serous ovarian cancer from 30 to 90%. The conclusions about the possibility of preventive measures of ovariancancer by opportunistic salpingectomy at post-productive age are made. In many world countries (Canada, China, France, Italy, Austria) the introduction of such a method of prevention has been started. We believe that in Ukraine there is an urgent need and all possibilities to solve this problem. Key words: ovarian cancer, preventive measures, opportunistic salpingectomy.

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P2.26 Clinical, histological and molecular genetic features of a congenital severe infantile rimmed vacuolar myopathy

Neuromuscular Disorders ◽

10.1016/j.nmd.2010.07.098 ◽

2010 ◽

Vol 20 (9-10) ◽

pp. 626

Author(s):

A. D’Amico ◽

S. Petrini ◽

F. Fattori ◽

M. Verardo ◽

R. Boldrini ◽

...

Keyword(s):

Molecular Genetic ◽

Vacuolar Myopathy ◽

Genetic Features ◽

Rimmed Vacuolar Myopathy

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Gastrointestinal stromal tumor presenting as a rectovaginal mass. Clinicopathologic and molecular-genetic characterization of a rare tumor with a literature review

Human Pathology ◽

10.1016/j.humpath.2010.08.007 ◽

2011 ◽

Vol 42 (4) ◽

pp. 586-593 ◽

Cited By ~ 8

Author(s):

Antje-Friederike Pelz ◽

Abbas Agaimy ◽

Marc Daniels ◽

Matthias Evert ◽

Hans-Ulrich Schulz ◽

...

Keyword(s):

Literature Review ◽

Gastrointestinal Stromal Tumor ◽

Genetic Characterization ◽

Molecular Genetic ◽

Stromal Tumor ◽

Rare Tumor ◽

Molecular Genetic Characterization

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Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations

Archives of Pathology & Laboratory Medicine ◽

10.5858/2003-127-1565-bstfdo ◽

2003 ◽

Vol 127 (12) ◽

pp. 1565-1572

Author(s):

Susan H. Bernacki ◽

Daniel H. Farkas ◽

Wenmei Shi ◽

Vivian Chan ◽

Yenbou Liu ◽

...

Keyword(s):

Cystic Fibrosis ◽

Genetic Testing ◽

Cell Lines ◽

Molecular Genetic ◽

Hereditary Hemochromatosis ◽

The Other ◽

Molecular Diagnostic ◽

Molecular Genetic Testing ◽

Diagnostic Applications ◽

Lymphocyte Cell

Abstract Context.—Bioelectronic sensors, which combine microchip and biological components, are an emerging technology in clinical diagnostic testing. An electronic detection platform using DNA biochip technology (eSensor) is under development for molecular diagnostic applications. Owing to the novelty of these devices, demonstrations of their successful use in practical diagnostic applications are limited. Objective.—To assess the performance of the eSensor bioelectronic method in the validation of 6 Epstein-Barr virus–transformed blood lymphocyte cell lines with clinically important mutations for use as sources of genetic material for positive controls in clinical molecular genetic testing. Two cell lines carry mutations in the CFTR gene (cystic fibrosis), and 4 carry mutations in the HFE gene (hereditary hemochromatosis). Design.—Samples from each cell line were sent for genotype determination to 6 different molecular genetic testing facilities, including the laboratory developing the DNA biochips. In addition to the bioelectronic method, at least 3 different molecular diagnostic methods were used in the analysis of each cell line. Detailed data were collected from the DNA biochip output, and the genetic results were compared with those obtained using the more established methods. Results.—We report the successful use of 2 applications of the bioelectronic platform, one for detection of CFTR mutations and the other for detection of HFE mutations. In all cases, the results obtained with the DNA biochip were in concordance with those reported for the other methods. Electronic signal output from the DNA biochips clearly differentiated between mutated and wild-type alleles. This is the first report of the use of the cystic fibrosis detection platform. Conclusions.—Bioelectronic sensors for the detection of disease-causing mutations performed well when used in a “real-life” situation, in this case, a validation study of positive control blood lymphocyte cell lines with mutations of public health importance. This study illustrates the practical potential of emerging bioelectronic DNA detection technologies for use in current molecular diagnostic applications.

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