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Diagnostics
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Genetics and Cytopathology Testing in Disease Diagnosis
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Genetics and Cytopathology Testing in Disease Diagnosis

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (28 September 2023) | Viewed by 4153

Special Issue Editor

Dr. Marco Fabiani

E-Mail Website
Guest Editor
1. Human Genetics, Altamedica, Rome, Italy
2. Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, Roma, Italy
Interests: molecular analysis; genetics; genetics of cardiomyopathies; whole-exome sequencing; reproductive genetics; preconception carrier screening; infertility; preimplatation genetic test

Special Issue Information

Dear Colleagues,

Genetics and cytopathology testing play a critical role in diagnosing and treating various diseases. Genetic testing involves the analysis of an individual’s DNA to identify changes or mutations that may contribute to disease development. This type of testing is often used to diagnose genetic disorders such as cystic fibrosis, Huntington’s disease, and sickle cell anemia. On the other hand, cytopathology testing involves the examination of cells and tissues under a microscope to detect abnormalities that may indicate disease. This type of testing is commonly used to diagnose cancer, infections, and other conditions. By combining these two approaches, healthcare professionals can obtain a more comprehensive understanding of a patient’s condition, leading to more accurate diagnoses and better treatment outcomes. Genetics and cytopathology tests have enabled medical professionals to identify genetic mutations, assess disease progression, and predict treatment response, allowing for more personalized and precise healthcare. Moreover, these tests have also facilitated the development of novel therapies and targeted drugs, leading to better outcomes for patients and their families. This Special Issue entitled “Genetics and Cytopathology Testing in Disease Diagnosis” is intended to provide a platform for a wide range of reviews, research articles, communications, case reports and technical notes related to genetics and cytopathology studies in clinical diagnostics. We also welcome submissions that focus on a strong precision medicine component and are devoted to assay validation, novel variants in disease, as well as functional studies that impact variant evaluation for clinical pathogenicity associated with inherited diseases and cancer.

Dr. Marco Fabiani
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetic testing
  • cytopathology testing
  • disease diagnosis
  • DNA analysis
  • cancer detection
  • inherited disorders
  • personalized medicine
  • target therapy
  • preventive medicine

Published Papers (4 papers)

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Research

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10 pages, 686 KiB  
Article
Genotypic Frequencies of Mutations Associated with Alpha-1 Antitrypsin Deficiency in Unrelated Bone Marrow Donors from the Murcia Region Donor Registry in the Southeast of Spain
by Irene Cuenca, Carmen Botella, María Rosa Moya-Quiles, Víctor Jimenez-Coll, José Antonio Galian, Helios Martinez-Banaclocha, Manuel Muro-Pérez, Alfredo Minguela, Isabel Legaz and Manuel Muro
Diagnostics 2023, 13(17), 2845; https://doi.org/10.3390/diagnostics13172845 - 02 Sep 2023
Viewed by 862
Abstract
Alpha-1 antitrypsin (AAT1) deficiency (AAT1D) is an inherited disease with an increased risk of chronic obstructive pulmonary disease (COPD), liver disease, and skin and blood vessel problems. AAT1D is caused by mutations in the SERPINE1 gene (Serine Protease Inhibitor, group A, member 1). [...] Read more.
Alpha-1 antitrypsin (AAT1) deficiency (AAT1D) is an inherited disease with an increased risk of chronic obstructive pulmonary disease (COPD), liver disease, and skin and blood vessel problems. AAT1D is caused by mutations in the SERPINE1 gene (Serine Protease Inhibitor, group A, member 1). Numerous variants of this gene, the Pi system, have been identified. The most frequent allelic variants are Pi*M, Pi*S, and Pi*Z. The development of COPD requires both a genetic predisposition and the contribution of an environmental factor, smoking being the most important. Studies on this deficiency worldwide are very scarce, and it is currently considered a rare disease because it is underdiagnosed. The aim of this study was to analyze the genotypic frequencies of mutations associated with AAT1 deficiency in unrelated bone marrow donors from the donor registry of the Region of Murcia in southeastern Spain due to the high risk of presenting with different pathologies and underdiagnosis in the population. A total of 112 DNA-healthy voluntary unrelated bone marrow donors from different parts of the Region of Murcia were analyzed retrospectively. AAT1 deficiency patient testing involved an automated biochemical screening routine. The three main variants, Pi*M, Pi*Z, and Pi*S, were analyzed in the SERPINE1 gene. Our results showed a frequency of 3.12% of the Pi*Z (K342) mutation in over 224 alleles tested in the healthy population. The frequency of Pi*S (V264) was 11.1%. The frequency of the haplotype with the most dangerous mutation, EK342 EE264, was 4.46%, and the frequency of EK342 EV264 was 1.78% in the healthy population. Frequencies of other EE342 EV264-mutated haplotypes accounted for 18.7%. As for the EE342 VV264 haplotype, 0.89% of the total healthy population presented heterozygous for the EV264 mutation and one individual presented homozygous for the VV264 mutation. In conclusion, the frequencies of Pi mutations in the healthy population of the Region of Murcia were not remarkably different from the few studies reported in Spain. The genotype and haplotype frequencies followed the usual pattern. Health authorities should be aware of this high prevalence of the Pi*S allelic variant and pathological genotypes such as Pi*MZ and Pi*SZ in the healthy population if they consider screening the smoking population. Full article
(This article belongs to the Special Issue Genetics and Cytopathology Testing in Disease Diagnosis)
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9 pages, 871 KiB  
Article
Utility of the Serum Protein Electrophoresis in the Opportunistic Screening for the Deficiency of Alpha-1 Antitrypsin
by Beatriz Fernández-Gomez, Sebastian Menao-Guillén, Ayla Fernandez Gonzalez, Maria Arruebo Muñio, Monica Ramos Alvarez, Mercedes Inda Landaluce, Maria Angeles Castillo Arce and Miguel Ángel Torralba-Cabeza
Diagnostics 2023, 13(17), 2778; https://doi.org/10.3390/diagnostics13172778 - 28 Aug 2023
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Abstract
Background: A deficiency in alpha-1 antitrypsin (AAT1) is a rare disorder that represents a significant health threat and early diagnostic priority issue. We investigated the usefulness of the serum protein electrophoresis (SPE) as an opportunistic screening tool for AAT1 deficiency. Methods: For 6 [...] Read more.
Background: A deficiency in alpha-1 antitrypsin (AAT1) is a rare disorder that represents a significant health threat and early diagnostic priority issue. We investigated the usefulness of the serum protein electrophoresis (SPE) as an opportunistic screening tool for AAT1 deficiency. Methods: For 6 months, all SPE carried out for any reasons were evaluated in our center. In those with less than 3% of alpha-1 globulins, AAT1 concentrations were studied. The SERPINA1 gene was subsequently sequenced in those patients displaying concentrations below 100 mg/dL. Results: Out of the total, 14 patients (0.3%) were identified with low AAT1 concentrations, with 11 of them agreeing to enter the study. Of those, mutations in the SERPINA1 gene were discovered in 10 patients (91%). Heterozygous mutations were detected in seven patients; three had the c.1096G>A mutation (p.Glu366Lys; Pi*Z), two had the c.863A>T mutation (p.Glu288Val; Pi*S), one had the c.221_223delTCT mutation (p.Phe76del; Pi*Malton), and the last one had the c.1066G>A (p.Ala356Thr) mutation, which was not previously described. Finally, one patient had the c.863A>T mutation in homozygosis, whereas two double heterozygous patients c.863A>T/c.1096G>A were detected. Conclusions: An altered result in the concentration of AAT1 anticipates a mutation in the SERPINA1 gene in a manner close to 91%. The relationship between a decrease in the alpha-1 globulin band of the SPE and an alteration in the AAT1 concentration is direct in basal states of health. The SPE is presented as a highly sensitive test for opportunistic screening of AAT1 deficiency. Full article
(This article belongs to the Special Issue Genetics and Cytopathology Testing in Disease Diagnosis)
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Review

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15 pages, 1544 KiB  
Review
The Role of Neutrophil Extracellular Traps in the Outcome of Malignant Epitheliomas: Significance of CA215 Involvement
by Mihai Emanuel Himcinschi, Valentina Uscatescu, Georgiana Gherghe, Irina Stoian, Adelina Vlad, Delia Codruța Popa, Daniel Coriu and Andrei Anghel
Diagnostics 2024, 14(3), 328; https://doi.org/10.3390/diagnostics14030328 - 02 Feb 2024
Viewed by 1050
Abstract
Neutrophil extracellular traps (NETs) were originally discovered as a part of the innate immune response of the host to bacteria. They form a web-like structure that can immobilize microorganisms or exhibit direct antimicrobial properties, such as releasing reactive oxygen species (ROS). NETs are [...] Read more.
Neutrophil extracellular traps (NETs) were originally discovered as a part of the innate immune response of the host to bacteria. They form a web-like structure that can immobilize microorganisms or exhibit direct antimicrobial properties, such as releasing reactive oxygen species (ROS). NETs are established when neutrophils undergo a sort of cellular death following exposure to ROS, chemokines, cytokines, or other soluble factors. This process results in the release of the neutrophil’s DNA in a web-like form, which is decorated with citrullinated histones (H3/H4-cit), neutrophil elastase (NE), and myeloperoxidase (MPO). Emerging studies have put into perspective that NETs play an important role in oncology as they were shown to influence tumor growth, malignant initiation, and proliferation, mediate the transition from endothelial to mesenchymal tissue, stimulate angiogenesis or metastasis, and can even help cancer cells evade the immune response. The role of NETs in cancer therapy resides in their ability to form and act as a mechanical barrier that will provide the primary tumor with a reduced response to irradiation or pharmaceutical penetration. Subsequently, cancer cells are shown to internalize NETs and use them as a strong antioxidant when pharmaceutical treatment is administered. In this review, we explored the role of NETs as part of the tumor microenvironment (TME), in the context of malignant epitheliomas, which are capable of an autonomous production of CA215, a subvariant of IgG, and part of the carcinoembryonic antigen (CEA) superfamily. Studies have shown that CA215 has a functional Fc subdivision able to activate the Fc-gamma-RS receptor on the surface of neutrophils. This activation may afterward stimulate the production of NETs, thus indicating CA215 as a potential factor in cancer therapy surveillance. Full article
(This article belongs to the Special Issue Genetics and Cytopathology Testing in Disease Diagnosis)
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Other

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5 pages, 1663 KiB  
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EML4-ALK Gene Mutation Detected with New NGS Lung Cancer Panel CDx Using Sputum Cytology in a Case of Advanced NSCLC
by Kei Morikawa, Kohei Kinoshita, Shin Matsuzawa, Hirotaka Kida, Hiroshi Handa, Takeo Inoue, Seiji Nakamura, Yoshiharu Sato and Masamichi Mineshita
Diagnostics 2023, 13(14), 2327; https://doi.org/10.3390/diagnostics13142327 - 10 Jul 2023
Viewed by 923
Abstract
The detection of driver gene mutations has become essential for lung cancer; however, insufficient sample sizes make gene panel tests difficult to use. We previously reported that the lung cancer compact panel TM (LCCP) could detect EGFR and MET gene mutations with sputum [...] Read more.
The detection of driver gene mutations has become essential for lung cancer; however, insufficient sample sizes make gene panel tests difficult to use. We previously reported that the lung cancer compact panel TM (LCCP) could detect EGFR and MET gene mutations with sputum cytology. To date, the detection of gene mutation using RNA from sputum samples is considered practically difficult. We report a case in which the EML4-ALK fusion gene was successfully detected from a sputum sample using the LCCP that was just released in Japan as a new next-generation sequencing lung cancer panel, CDx. Full article
(This article belongs to the Special Issue Genetics and Cytopathology Testing in Disease Diagnosis)
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