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Diagnostics
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Advances in Diagnostic Pathology
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Advances in Diagnostic Pathology

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

Deadline for manuscript submissions: closed (30 November 2024) | Viewed by 7258

Special Issue Editor

Prof. Dr. Sergejs Isajevs

E-Mail Website
Guest Editor
Faculty of Medicine, University of Latvia, LV-1004 Riga, Latvia
Interests: diagnostic pathology; tumour biomarkers; molecular pathology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue collates state-of-the-art knowledge of modern advances in diagnostic pathology, focusing on tissue biomarkers and the diagnostic and molecular pathology of malignant tumours. This Special Issue provides a platform for the dissemination of key opinions and research from leaders in the field through the timely publication of papers covering the latest developments and advances in pathology. For this Special Issue, we welcome high-quality original research focusing on the latest advances in tissue diagnostics, tumour diagnostics, and tumour biomarkers, as well as novel molecular pathology techniques covering novel diagnostics tools and the identification of new therapeutic targets. Manuscripts from different areas of pathology and laboratory medicine are welcomed, especially novel tissue diagnostic advances, molecular pathology, breast pathology, and gynaecological pathology.

We encourage you to submit a manuscript for this forthcoming Special Issue.

Prof. Dr. Sergejs Isajevs
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

  • diagnostic pathology
  • molecular pathology
  • tumour biomarkers
  • laboratory medicine
  • breast pathology
  • gynaecological pathology

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (5 papers)

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Research

19 pages, 2457 KiB  
Article
Liposclerosing Myxofibrous Tumor: A Separated Clinical Entity?
by Eva Manuela Pena-Burgos, Gabriela Serra del Carpio, Mar Tapia-Viñe, Julia Suárez-González, Ismael Buño, Eduardo Ortiz-Cruz and Jose Juan Pozo-Kreilinger
Diagnostics 2025, 15(5), 536; https://doi.org/10.3390/diagnostics15050536 - 22 Feb 2025
Viewed by 570
Abstract
Introduction: Liposclerosing myxofibrous tumors (LSMFTs) have been described as an infrequent and peculiar fibrous dysplasia variant with a predilection for the intertrochanteric femoral region and are not globally considered a distinct tumor. Given their features, they may be confused with a variety [...] Read more.
Introduction: Liposclerosing myxofibrous tumors (LSMFTs) have been described as an infrequent and peculiar fibrous dysplasia variant with a predilection for the intertrochanteric femoral region and are not globally considered a distinct tumor. Given their features, they may be confused with a variety of entities. Our aim is to analyze the clinical, radiological, histopathological and molecular features of LSMFTs. Material and Methods: We report 15 new LSMFT cases managed in our tertiary referral hospital and compare our findings with those of the 241 previous LSMFT cases published in the English medical literature. Results: In plain radiography and computerized tomography, LSMFTs are well-defined intraosseous lytic masses with peripheral sclerotic rims and variable amounts of internal calcifications. Histopathologically, LSFMTs consist of variable amounts of spindle cells, bone matrix, adipose tissue, and cystic spaces embedded in a predominantly fibromyxoid stroma. Molecular tests reveal GNAS and TP53 mutations. Conclusions: Knowledge of LSMFT and its typical radiological appearance with heterogeneous histopathological findings—especially in small biopsies—are key to preventing the misdiagnosis and overtreatment of affected patients. Full article
(This article belongs to the Special Issue Advances in Diagnostic Pathology)
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18 pages, 3584 KiB  
Article
Hematopathological Patterns in Acute Myeloid Leukemia with Complications of Overt Disseminated Intravascular Coagulation
by Bernhard Strasser, Sebastian Mustafa, Josef Seier, Josef Tomasits and Alexander Haushofer
Diagnostics 2025, 15(3), 383; https://doi.org/10.3390/diagnostics15030383 - 6 Feb 2025
Viewed by 831
Abstract
Background: Acute myeloid leukemia (AML) complicated by disseminated intravascular coagulation (DIC) poses major diagnostic and therapeutic challenges. While DIC is well documented in acute promyelocytic leukemia, its manifestations in non-APL AML remain underexplored, necessitating precise diagnostic strategies for effective management. Methods: AML patients [...] Read more.
Background: Acute myeloid leukemia (AML) complicated by disseminated intravascular coagulation (DIC) poses major diagnostic and therapeutic challenges. While DIC is well documented in acute promyelocytic leukemia, its manifestations in non-APL AML remain underexplored, necessitating precise diagnostic strategies for effective management. Methods: AML patients with overt DIC were analyzed, including morphological, immunophenotypic, cytogenetic, and genetic evaluations. DIC was diagnosed using the ISTH scoring system, and AML subtypes were classified following WHO criteria. Results: Three diagnostic patterns were identified. (1) Acute promyelocytic leukemia: Leukemia characterized by PML::RARa rearrangements, FLT3 co-mutations, and frequent Auer rods and faggot bundles. Immunocytological analysis showed CD34 and HLA-DR negativity. (2) AML with FLT3 and/or NPM1 mutations: A high prevalence of cup-like blasts was found in 70% of cases. FLT3 mutations, often co-occurring with NPM1, dominated, while karyotypes were typically normal. Immunophenotyping revealed strong myeloid marker expression (MPO+, CD13+, and CD33+), with occasional CD34 negativity. (3) AML with monocytic differentiation: Leukemia defined by monoblastic/promonocytic morphology, DNMT3A mutations, and complex karyotypes or 11q23 rearrangements. Immunophenotyping demonstrated a dominance of monocytic markers (CD4+, CD14+, CD15+, and CD64+). Two patients presented unique profiles with no alignment to these patterns. Conclusions: This study highlights distinct hematopathological patterns of AML with overt DIC, providing a framework for early and precise diagnosis. Recognizing these patterns is critical for tailoring diagnostic and therapeutic approaches to improve outcomes in this high-risk population. Full article
(This article belongs to the Special Issue Advances in Diagnostic Pathology)
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12 pages, 8125 KiB  
Article
The Investigation of Somatostatin Receptors as a Potential Target in Breast Phyllodes Tumours
by Hande Süer Mickler and Murat Mert Erkan
Diagnostics 2024, 14(24), 2841; https://doi.org/10.3390/diagnostics14242841 - 17 Dec 2024
Viewed by 752
Abstract
Background: Somatostatin receptors (SSTRs) are expressed in most neuroendocrine neoplasms, particularly in gastroenteropancreatic neuroendocrine tumours, and have been utilised as diagnostic markers and therapeutic targets. The radioiodinated somatostatin analogue 1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic acid- Tyr3-octreotate (DOTATATE) has been employed for SSTR targeting for either diagnostic or [...] Read more.
Background: Somatostatin receptors (SSTRs) are expressed in most neuroendocrine neoplasms, particularly in gastroenteropancreatic neuroendocrine tumours, and have been utilised as diagnostic markers and therapeutic targets. The radioiodinated somatostatin analogue 1,4,7,10-tetraazacyclododecane-1,4,7,10-tetraacetic acid- Tyr3-octreotate (DOTATATE) has been employed for SSTR targeting for either diagnostic or therapeutic purposes depending on the labelling with 68Gallium or 177Lutetium, respectively. SSTR expression is reported in a subset of breast adenocarcinoma and breast neuroendocrine carcinomas; however, minimal knowledge exists regarding their expression in fibroepithelial (biphasic) breast lesions such as fibroadenoma and phyllodes tumours. Aggressive ends of the spectrum, i.e., “cystosarcoma phyllodes”, may present a management challenge with recurrences and metastases, and SSTRs could be a promising therapeutic target for these types of tumours. Methods: Gene and protein expressions of SSTRs in primary human fibroepithelial lesions of the breast are investigated using RT-PCR and immunoblotting. Localisation of the SSTR-positive cells was determined with immunohistochemistry and immunofluorescence. Results and Conclusions: Both fibroadenoma and phyllodes tumours express SSTRs. Immunohistochemical analyses suggested that this expression is in the stromal, not epithelial, component by demonstrating that SSTR stained in the areas overlapping with α-smooth muscle actin-positive myoepithelial cells around blood vessels and capillary structures. This study is the first in the literature to demonstrate SSTR positivity in mammary fibroepithelial neoplasms. Once validated, these findings may also have significant implications for managing the treatment of these tumours. Full article
(This article belongs to the Special Issue Advances in Diagnostic Pathology)
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23 pages, 13411 KiB  
Article
Comparison of Tissue Factors in the Ontogenetic Aspects of Human Cholesteatoma
by Kristaps Dambergs, Gunta Sumeraga and Māra Pilmane
Diagnostics 2024, 14(6), 662; https://doi.org/10.3390/diagnostics14060662 - 21 Mar 2024
Viewed by 1673
Abstract
Background: An acquired cholesteatoma is a benign but locally aggressive lesion in the middle ear. It is characterized by chronic inflammation and the destruction of surrounding bone. Therefore, the aim of this study was to compare defensins HβD-2 and HβD-4; pro- and anti-inflammatory [...] Read more.
Background: An acquired cholesteatoma is a benign but locally aggressive lesion in the middle ear. It is characterized by chronic inflammation and the destruction of surrounding bone. Therefore, the aim of this study was to compare defensins HβD-2 and HβD-4; pro- and anti-inflammatory cytokines IL-1α and IL-10; proliferation marker Ki-67; transcription factor NF-κβ; angiogenetic factor VEGF; Sonic hedgehog gene protein SHH; and remodeling factors MMP-2, MMP-9, TIMP-2, and TIMP-4 in adult and pediatric cholesteatoma tissue, and to compare these groups with control skin tissue. Methods: The study included 25 cholesteatoma tissue material samples from children, 25 from adults, and 7 deep external ear canal skin samples from cadavers. The tissues were stained immunohistochemically and evaluated using semi-quantitative methods. Nonparametric tests, such as the Kruskal–Wallis test and Spearman rank correlation, were used. Results: There were no statistically discernible differences between the adult and children groups when comparing the relative numbers of factor-positive cells. Conclusions: There are no histopathological differences between adult and children cholesteatoma tissues. Full article
(This article belongs to the Special Issue Advances in Diagnostic Pathology)
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11 pages, 2017 KiB  
Article
Evaluation of Stability and Accuracy Compared to the Westergren Method of ESR Samples Analyzed at VES-MATIC 5
by Maria Lorubbio, Daniela Diamanti, Alessandro Ghiandai, Carolina Pieroni, Donatella Bonini, Massimiliano Pettinari, Gabriele Gorini, Stefania Bassi, Paola Meloni and Agostino Ognibene
Diagnostics 2024, 14(5), 557; https://doi.org/10.3390/diagnostics14050557 - 6 Mar 2024
Cited by 3 | Viewed by 2704
Abstract
The Erythrocyte Sedimentation Rate (ESR) is a diagnostic estimator of systemic inflammation as a reflection of acute phase proteins circulating in the blood. The purpose of this manuscript is to evaluate the blood stability at room temperature (RT) and at 4 °C to [...] Read more.
The Erythrocyte Sedimentation Rate (ESR) is a diagnostic estimator of systemic inflammation as a reflection of acute phase proteins circulating in the blood. The purpose of this manuscript is to evaluate the blood stability at room temperature (RT) and at 4 °C to avoid ESR diagnostic errors, as well as the accuracy of the VES-MATIC 5 analyzer. The ESR stability evaluation at RT for 24 h (4 h “T1”, 6 h “T2”, 8 h “T3”, 10 h “T4”, 24 h “T5”) and at 4 °C (24 h, 36 h, 48 h) was carried out using 635 total samples, starting with T0 (2 h of venipuncture). For method comparison, 164 patients were analyzed using VES-MATIC 5 and then the Westergren reference method. The sample at RT is established by a significant gradual decrease in correlation R = 0.99 (T0 vs. T1), R = 0.97 (T0 vs. T2), R = 0.92 (T0 vs. T3), R = 0.87 (T0 vs. T4), and R = 0.40 (T0 vs. T5). The stability at 4 °C after 24 h, 36 h, and 48 h showed a regression of R = 0.99, R = 0.97, and R = 0.95, respectively. Therefore, ESR measurements on RT samples beyond 6 h after collection cannot be carried out, but the ESR can be measured until 36 h for samples stored at 4 °C. Moreover, the VES-MATIC 5 accuracy performance compared to the Westergren method (R = 0.96) is confirmed. Full article
(This article belongs to the Special Issue Advances in Diagnostic Pathology)
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