Molecular genetic testing for BRAF V600 gene mutations in melanoma in the Republic of Kazakhstan

2021 ◽  
Vol 59 (1) ◽  
pp. 20-24
Author(s):  
Dilyara Kaidarova ◽  
Zaure Dushimova ◽  
Madina Orazgaliyeva ◽  
Oxana Shatkovskaya ◽  
Sakhadat Alieva ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Gene Mutation ◽  
Molecular Genetic ◽  
Diagnostic Methods ◽  
Braf V600e ◽  
Malignant Neoplasms ◽  
Comprehensive Cancer Control ◽  
Molecular Genetic Testing ◽  
Control Plan ◽  
The Republic

Along with other diagnostic methods, all current recommendations and protocols for malignant tumors’ diagnostics and treatment require mandatory molecular genetic testing at the initial diagnosis and in case of disease progression. The discovery of the BRAF gene mutation in skin melanoma allows the treatment with tyrosine kinase inhibitors, so-called BRAF inhibitors. This increases the probability of tumor response by half and opens up new therapeutic options. The study aimed to identify the BRAF V600E gene mutation frequency in patients with stage III-IV melanoma in the Republic of Kazakhstan to determine the need for targeted therapy. Results: 2251 persons are currently registered with melanoma in the Republic of Kazakhstan, with 355 new primary melanoma cases in 2019. Of them, 54% were diagnosed at stages III-IV and were subject to molecular genetic testing. 278 of 2251 patients were sent for BRAF mutations testing. The mutations were detected in 105 (37.7%) patients. Conclusion: The introduction of molecular genetic testing for malignant neoplasms under the Comprehensive Cancer Control Plan framework for 2018-2022 will increase the use of molecular genetic methods in the Republic of Kazakhstan. Molecular genetic testing is an important step in diagnosing melanoma and choosing the appropriate therapy to personalize cancer treatment.

scholarly journals Molecular genetic testing for BRAF V600 gene mutations in melanoma in the Republic of Kazakhstan

2021 ◽  
Vol 59 (1) ◽  
pp. 20-24
Author(s):  
Dilyara Kaidarova ◽  
Zaure Dushimova ◽  
Madina Orazgaliyeva ◽  
Oxana Shatkovskaya ◽  
Saadat Alieva ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Gene Mutation ◽  
Malignant Tumors ◽  
Molecular Genetic ◽  
Diagnostic Methods ◽  
Braf V600e ◽  
Malignant Neoplasms ◽  
Molecular Genetic Testing ◽  
Control Plan ◽  
The Republic

Relevance: Along with other diagnostic methods, all current recommendations and protocols for malignant tumors’ diagnostics and treatment require mandatory molecular genetic testing at the initial diagnosis and in case of disease progression. The discovery of the BRAF gene mutation in skin melanoma allows the treatment with tyrosine kinase inhibitors, so-called BRAF inhibitors. This increases the probability of tumor response by half and opens up new therapeutic options. The study aimed to identify the BRAF V600E gene mutation frequency in patients with stage III-IV melanoma in the Republic of Kazakhstan to determine the need for targeted therapy. Results: 2251 persons are currently registered with melanoma in the Republic of Kazakhstan, with 355 new primary melanoma cases in 2019. Of them, 54% were diagnosed at stages III-IV and were subject to molecular genetic testing. 278 of 2251 patients were sent for BRAF mutations testing. The mutations were detected in 105 (37.7%) patients. Conclusion: The introduction of molecular genetic testing for malignant neoplasms under the Comprehensive Cancer Control Plan framework for 2018-2022 will increase the use of molecular genetic methods in the Republic of Kazakhstan. Molecular genetic testing is an important step in diagnosing melanoma and choosing the appropriate therapy to personalize cancer treatment.

scholarly journals Results of the «Comprehensive Cancer Control Plan in the Republic of Kazakhstan for 2018-2022» realization in 2019

2021 ◽  
Vol 58 (4) ◽  
pp. 4-11
Author(s):  
D. KAIDAROVA ◽  
O. SHATKOVSKAYA ◽  
Z. DUSHIMOVA
Keyword(s):  
Early Detection ◽  
Cancer Control ◽  
Service Improvement ◽  
Malignant Neoplasms ◽  
Comprehensive Cancer Control ◽  
Plan Implementation ◽  
Control Plan ◽  
Cancer Service ◽  
Incidence And Mortality ◽  
The Republic

Relevance: Cancer control is among the key social policy priorities in the Republic of Kazakhstan. 14,000 people die from cancer every year. As a result, our country faces an epidemiologic crisis caused by the increasing malignancy-related incidence and mortality, plus the increasing number of people living with cancer. In 2019, 186 326 patients with malignant neoplasms were under dynamic supervision in Kazakhstan; 52.5% lived for five years or more [1]. WHO prognosis a 1.5-2 times growth of annual malignancy-related incidence and mortality worldwide by 2022. The Republic of Kazakhstan follows the same trend, taking into account the growing welfare and life expectancy of the population and an increase in the detection of malignant neoplasms due to the introduction of early detection programs [2]. This study aimed to assess the implementation in 2019 of the Comprehensive Cancer Control Plan in the Republic of Kazakhstan for 2018-2022. Results: Intermediate Comprehensive Plan implementation results showed the efficacy of the conducted measures as reflected by major cancer service indicators. Thus, the early detection has improved: stage 0-I detection amounted to 27.1% of all new cases (2019 target – 25.2%). This had a positive impact on cancer survival: in 2019, the proportion of 5-year or more survival was 54.7% for breast cancer (2019 target – 54.5%), 56.8% for cervical cancer (2019 target – 55.8%), 46.6% for colorectal cancer (2019 target – 45.8%) [1]. Conclusion: The Comprehensive Cancer Control Plan implementation results evidence cancer service improvement in the Republic of Kazakhstan as of 2019 (increased 5-year survival and decreased mortality). However, a high share of detection of visually accessible malignant neoplasms at generalized and advanced stages should be addressed in the coming years.

scholarly journals First IKBKG gene mutation study in Serbian incontinentia pigmenti patients

2013 ◽  
Vol 141 (7-8) ◽  
pp. 490-494 ◽  
Author(s):  
Snezana Minic ◽  
Dusan Trpinac ◽  
Heinz Gabriel ◽  
Martin Gencik ◽  
Miljana Obradovic
Keyword(s):  
Genetic Testing ◽  
Gene Mutation ◽  
Molecular Genetic ◽  
Incontinentia Pigmenti ◽  
Molecular Genetic Testing ◽  
Skin Changes ◽  
Gene Testing ◽  
Skin Biopsies ◽  
Exon 4 ◽  
Ikbkg Gene

Introduction. Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. Mutations of the IKBKG gene are the only known cause of IP. The presence of other than skin changes is important in the diagnosis of atypical IP cases when skin changes are discrete. Objective. The study was designed to analyze clinical manifestation, family histories and the frequency of IKBKG gene mutation in IP patients in Serbia for the first time and to compare them with other reported findings. Methods. Two Serbian unrelated families with eight female subjects were investigated. Blood samples were used for IKBKG exon 4-10 deletion testing using modified PCR protocol. For probands pathohistological and ultrastructural analyses of skin biopsies were done. Results. Positive clinical diagnosis according to IP criteria was present in seven cases. In six of them, including probands, positive molecular gene testing for IKBKG exon 4-10 deletion was present. Conclusion. This is the first report of genetically confirmed IP in two Serbian families. The IP patients presented a common IKBKG exon 4-10 deletion. The frequency and type of IKBKG mutation found in investigated IP patients in Serbia were similar to results of other studies. Various clinical features of investigated patients have allowed us to demonstrate that molecular genetic testing which specifically detects the common IKBKG mutations, the only known cause of IP, is useful in diagnosing IP especially in mild or atypical cases. The molecular genetic testing of the IKBKG mutations may be helpful for rapid confirmation of IP diagnosis, prenatal diagnosis and carrier detection.

scholarly journals Diagnosing Paraproteinemic Keratopathy: A Case Report

2021 ◽  
pp. 337-343
Author(s):  
Eugenie Mok ◽  
Ka Wai Kam ◽  
Anthony J. Aldave ◽  
Alvin L. Young
Keyword(s):  
Optical Coherence Tomography ◽  
Genetic Testing ◽  
Serum Protein ◽  
Molecular Genetic ◽  
Anterior Segment ◽  
Protein Electrophoresis ◽  
Serum Protein Electrophoresis ◽  
Optical Coherence ◽  
Molecular Genetic Testing ◽  
Corneal Opacities

A 65-year-old man presented with bilateral, painless, progressive blurring of vision over 9 years. Slit-lamp examination revealed bilateral subepithelial corneal opacities in clusters located at the mid-periphery. Anterior segment optical coherence tomography, in vivo confocal microscopy (IVCM), serum protein electrophoresis, and molecular genetic testing were performed to evaluate the cause of corneal opacities. Anterior segment optical coherence tomography revealed a band-like, hyperreflective lesion in the Bowman layer and anterior stroma of both corneas. IVCM revealed hyperreflective deposits in the epithelium, anterior stroma, and endothelium. Serum protein electrophoresis identified the presence of paraproteins (immunoglobulin kappa), and molecular genetic testing revealed absence of mutations in the transforming growth factor beta-induced gene (<i>TGFBI</i>) and collagen type XVII alpha 1 gene (<i>COL17A1</i>). The ocular diagnosis of paraproteinemic keratopathy eventually led to a systemic diagnosis of monoclonal gammopathy of undetermined significance by our hematologist/oncologist. Paraproteinemic keratopathy is a rare differential diagnosis in patients with bilateral corneal opacities and therefore may be misdiagnosed as corneal dystrophy or neglected as scars. In patients with bilateral corneal opacities of unknown cause, serological examination, adjunct anterior segment imaging, and molecular genetic testing play a role in establishing the diagnosis.

scholarly journals Initial Diagnostic Workup of Acute Leukemia: Guideline From the College of American Pathologists and the American Society of Hematology

2017 ◽  
Vol 141 (10) ◽  
pp. 1342-1393 ◽  
Author(s):  
Daniel A. Arber ◽  
Michael J. Borowitz ◽  
Melissa Cessna ◽  
Joan Etzell ◽  
Kathryn Foucar ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Acute Leukemia ◽  
Lymphoblastic Leukemia ◽  
Molecular Genetic ◽  
Clinical Information ◽  
Molecular Genetic Testing ◽  
Acute Leukemias ◽  
Prognostic Evaluation ◽  
The Public ◽  
American Society

Context.— A complete diagnosis of acute leukemia requires knowledge of clinical information combined with morphologic evaluation, immunophenotyping and karyotype analysis, and often, molecular genetic testing. Although many aspects of the workup for acute leukemia are well accepted, few guidelines have addressed the different aspects of the diagnostic evaluation of samples from patients suspected to have acute leukemia. Objective.— To develop a guideline for treating physicians and pathologists involved in the diagnostic and prognostic evaluation of new acute leukemia samples, including acute lymphoblastic leukemia, acute myeloid leukemia, and acute leukemias of ambiguous lineage. Design.— The College of American Pathologists and the American Society of Hematology convened a panel of experts in hematology and hematopathology to develop recommendations. A systematic evidence review was conducted to address 6 key questions. Recommendations were derived from strength of evidence, feedback received during the public comment period, and expert panel consensus. Results.— Twenty-seven guideline statements were established, which ranged from recommendations on what clinical and laboratory information should be available as part of the diagnostic and prognostic evaluation of acute leukemia samples to what types of testing should be performed routinely, with recommendations on where such testing should be performed and how the results should be reported. Conclusions.— The guideline provides a framework for the multiple steps, including laboratory testing, in the evaluation of acute leukemia samples. Some aspects of the guideline, especially molecular genetic testing in acute leukemia, are rapidly changing with new supportive literature, which will require on-going updates for the guideline to remain relevant.

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

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.

STUDY OF CLINICAL CASES OF MYOCHE’S MYOPATHY AND DIFFERENTIAL DIAGNOSIS WITH OTHER TYPES OF ADVERSE MYOPATHIES

2021 ◽  
Author(s):  
K. Sarazhyna ◽  
Y. Solodovnikova ◽  
A. Son
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Skeletal Muscles ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Lower Limbs ◽  
Molecular Genetic Testing ◽  
Membrane Repair ◽  
Rare Type ◽  
A Cell

Markesbery-Griggs myopathy, Miyoshi type (MM) is a rare type of myopathy, a form muscular dystrophy with the main involvement of the lower girdle and distal parts of the legs. Due to complexity of genetic testing, the diagnosis is mainly made on the neurological examination of the patient, which adds value to this case report. The childhood or adolescence onset of the disease is characterized initially by the calf muscles` wasting, accompanied by the severe elevation of the serum creatine kinase, as well as a slowly progressive ascending course. The disease refers to dysferlinopathies with various mutations in the DYSF gene. The dysferlin protein is localized in the plasma membrane and in the T-tubule system of skeletal muscles. Physiologically, skeletal muscles are constantly exposed to micromembrane lesions. Depending on the severity, these damages are restored using various complexes. One of the main reparative complexes is the dysferlin-dependent mechanism. Mutations can lead to a defect in the membrane repair, causing the influx of Ca 2+ into the cell, which leads to a cell`s destruction. There are three genetically identifiable types of Miyoshi myopathy: MMD1, MMD2, MMD3. The main clinical signs of the disease are the muscle weakness and atrophy, with predominant involvement of the distal parts of the lower limbs, especially in the gastrocnemius and plantar muscles. The MM causes tip toe walking disturbances and difficulties in climbing the stairs. Progression of the disease and further atrophy leads to the wasting of the lower girdle muscles, mainly gluteal ones. Peculiarity of these myopathies is the absence of cardiomyopathy, due to the immunity of cardiomyocytes to a deficiency of the protein dysferelin. Diagnosis is made on the basis of muscle biopsy and molecular genetic testing. The gold standard is immunoblotting or immunohistochemistry. One of treatment methods is the use of improperly folded dysferlin (treatment with a proteasome inhibitor MG-132) in fibroblasts with restoration of membrane sealing. The aim of this case report is to present an example of a possible clinical diagnosis of MM in a young man, in the absence of opportunities for molecular genetic testing.

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