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Diagnostics
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Histopathology in Cancer Diagnosis and Prognosis
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Histopathology in Cancer Diagnosis and Prognosis

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 11074

Special Issue Editor

Dr. Christina Magkou

E-Mail Website
Guest Editor
Department of Pathology, Evangelismos Hospital, 10676 Athens, Greece
Interests: cancer immunohistochemistry; cell biology; lung histopathology; microscopy; pathology; cancer di-agnostics; histology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

In the era of precision medicine, histopathology has continued its rapid pace of development in the field of understanding cancer biology. An accurate diagnostic approach is of great importance now more than ever. New diagnostic tools are being incorporated into daily practice, with important implications for patient care and prognosis, while prognostic and predictive markers, as well as molecular techniques, are being incorporated into histology reports. This Special Issue represents an opportunity to gather pathologists and researchers to share their research results or documented reviews dedicated to advanced diagnostic approaches, from biomarkers and genetic/molecular tests to more complex techniques. Therefore, we wholeheartedly invite pathologists and investigators to submit their original research articles, review articles, and case reports to our Special Issue.

Dr. Christina Magkou
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

  • cancer
  • precision medicine
  • histopathology
  • diagnosis
  • prognostic/predictive markers

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Published Papers (5 papers)

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Research

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19 pages, 4691 KiB  
Article
Different Shades of Desmoid-Type Fibromatosis (DTF): Detection of Noval Mutations in the Clinicopathologic Analysis of 32 Cases
by Rana Ajabnoor
Diagnostics 2024, 14(19), 2161; https://doi.org/10.3390/diagnostics14192161 - 28 Sep 2024
Viewed by 1381
Abstract
Background: Desmoid-type fibromatosis (DTF) is a locally aggressive myofibroblastic/fibroblastic neoplasm with a high risk of local recurrence. It has a variety of histologic features that might confuse diagnosis, especially when detected during core needle biopsy. The Wnt/β-catenin pathway is strongly linked to the [...] Read more.
Background: Desmoid-type fibromatosis (DTF) is a locally aggressive myofibroblastic/fibroblastic neoplasm with a high risk of local recurrence. It has a variety of histologic features that might confuse diagnosis, especially when detected during core needle biopsy. The Wnt/β-catenin pathway is strongly linked to the pathogenesis of DT fibromatosis. Method: This study examined 33 desmoid-type fibromatoses (DTFs) from 32 patients, analyzing its clinical characteristics, histologic patterns, occurrence rates, relationship with clinical outcomes, immunohistochemical and molecular findings. Results: The DTFs exhibit a range of 1 to 7 histologic patterns per tumor, including conventional, hypercellular, myxoid, hyalinized/hypocellular, staghorn/hemangiopericytomatous blood vessels pattern, nodular fasciitis-like, and keloid-like morphology. No substantial association was found between the existence of different histologic patterns and the clinical outcome. All thirty-three (100%) samples of DTF had a variable percentage of cells that were nuclear positive for β-catenin. An NGS analysis detected novel non-CTNNB1 mutations in two DTFs, including BCL10, MPL, and RBM10 gene mutations. Conclusions: This study reveals a diverse morphology of DTFs that could result in misdiagnosis. Therefore, surgical pathologists must comprehend this thoroughly. Also, the importance of the newly identified non-CTNNB1 gene mutations is still unclear. More research and analyses are needed to completely grasp the clinical implications of these mutations. Full article
(This article belongs to the Special Issue Histopathology in Cancer Diagnosis and Prognosis)
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17 pages, 3821 KiB  
Article
Application of the 5th WHO Guidelines for the Diagnosis of Lung Carcinoma in Small Lung Biopsies in a Tertiary Care Center: Is Insecurity of Pathologists for the Accurate Diagnosis Justified?
by Manuela Beckert, Christian Meyer, Thomas Papadopoulos and Georgia Levidou
Diagnostics 2024, 14(18), 2090; https://doi.org/10.3390/diagnostics14182090 - 21 Sep 2024
Viewed by 1081
Abstract
Background/Objectives: The diagnosis of lung carcinoma (LC) is currently performed in small biopsies and according to the WHO classification by using limited stains to spare tissue for molecular testing. This procedure, however, often causes diagnostic uncertainty among pathologists. Methods: In this retrospective analysis, [...] Read more.
Background/Objectives: The diagnosis of lung carcinoma (LC) is currently performed in small biopsies and according to the WHO classification by using limited stains to spare tissue for molecular testing. This procedure, however, often causes diagnostic uncertainty among pathologists. Methods: In this retrospective analysis, we compared the diagnosis made by these guidelines in 288 lung biopsies with that using more stains, as retrieved from our archive. We also compared the results of p63 and p40 immunoexpression and investigated the diagnostic role of p53/Rb1. Results: In our investigation, we reached a definite diagnosis with a mean number of one stain compared with six stains in the original diagnostic procedure, with a 97.3% concordance rate. Only in the case of metastases, a clear advantage is proven in the use of more stains, especially in the absence of clinical information. We also found a comparable utility of p40 and p63 for the diagnosis of squamous cell carcinoma, despite the higher p63 expression in other histological types. Moreover, normal p53/Rb1 expression could be utilized for the exclusion of small-cell LC. Conclusions: Our study confirms the diagnostic certainty achieved by the suggestions of the WHO classification and justifies the potential insecurity in the absence of adequate communication with the treating clinician. Full article
(This article belongs to the Special Issue Histopathology in Cancer Diagnosis and Prognosis)
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13 pages, 1314 KiB  
Article
Diagnostic Value of DAPK Methylation for Nasopharyngeal Carcinoma: Meta-Analysis
by Thuan Duc Lao, Phuong Kim Truong and Thuy Ai Huyen Le
Diagnostics 2023, 13(18), 2926; https://doi.org/10.3390/diagnostics13182926 - 12 Sep 2023
Cited by 2 | Viewed by 1448
Abstract
Background: Methylation of DAPK has been reported to play a key role in the initiation and progression of nasopharyngeal cancer. However, there are differences between the studies on it. This meta-analysis was performed to evaluate the diagnostic value of DAPK promoter methylation for [...] Read more.
Background: Methylation of DAPK has been reported to play a key role in the initiation and progression of nasopharyngeal cancer. However, there are differences between the studies on it. This meta-analysis was performed to evaluate the diagnostic value of DAPK promoter methylation for NPC. Method: The study method involves the systematic research of eligible studies based on criteria. The frequency, odds ratios (OR), sensitivity as well as specificity with the corresponding 95% confidence intervals (CIs) were used to assess the effect sizes. Results: A total of 13 studies, including 1048 NPC samples and 446 non-cancerous samples, were used for the meta-analysis. The overall frequencies of DAPK methylation were 56.94% and 9.28% in NPC samples and non-cancerous samples, respectively. The association between DAPK methylation and risk of NPC was also confirmed by calculating the OR value which was 13.13 (95%CI = 54.24–40.72) based on a random-effect model (Q = 64.74; p < 0.0001; I2 = 81.47% with 95%CI for I2 = 69.39–88.78). Additionally, the study results suggest that testing for DAPK methylation in tissue samples or brushing may provide a promising method for diagnosing NPC. Conclusion: This is the first meta-analysis that provided scientific evidence that methylation of the DAPK gene could serve as a potential biomarker for diagnosis, prognosis, and early screening of NPC patients. Full article
(This article belongs to the Special Issue Histopathology in Cancer Diagnosis and Prognosis)
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14 pages, 2029 KiB  
Article
QuPath Algorithm Accurately Identifies MLH1-Deficient Inflammatory Bowel Disease-Associated Colorectal Cancers in a Tissue Microarray
by Ross J. Porter, Shahida Din, Peter Bankhead, Anca Oniscu and Mark J. Arends
Diagnostics 2023, 13(11), 1890; https://doi.org/10.3390/diagnostics13111890 - 28 May 2023
Cited by 5 | Viewed by 3399
Abstract
Current methods for analysing immunohistochemistry are labour-intensive and often confounded by inter-observer variability. Analysis is time consuming when identifying small clinically important cohorts within larger samples. This study trained QuPath, an open-source image analysis program, to accurately identify MLH1-deficient inflammatory bowel disease-associated colorectal [...] Read more.
Current methods for analysing immunohistochemistry are labour-intensive and often confounded by inter-observer variability. Analysis is time consuming when identifying small clinically important cohorts within larger samples. This study trained QuPath, an open-source image analysis program, to accurately identify MLH1-deficient inflammatory bowel disease-associated colorectal cancers (IBD-CRC) from a tissue microarray containing normal colon and IBD-CRC. The tissue microarray (n = 162 cores) was immunostained for MLH1, digitalised, and imported into QuPath. A small sample (n = 14) was used to train QuPath to detect positive versus no MLH1 and tissue histology (normal epithelium, tumour, immune infiltrates, stroma). This algorithm was applied to the tissue microarray and correctly identified tissue histology and MLH1 expression in the majority of valid cases (73/99, 73.74%), incorrectly identified MLH1 status in one case (1.01%), and flagged 25/99 (25.25%) cases for manual review. Qualitative review found five reasons for flagged cores: small quantity of tissue, diverse/atypical morphology, excessive inflammatory/immune infiltrations, normal mucosa, or weak/patchy immunostaining. Of classified cores (n = 74), QuPath was 100% (95% CI 80.49, 100) sensitive and 98.25% (95% CI 90.61, 99.96) specific for identifying MLH1-deficient IBD-CRC; κ = 0.963 (95% CI 0.890, 1.036) (p < 0.001). This process could be efficiently automated in diagnostic laboratories to examine all colonic tissue and tumours for MLH1 expression. Full article
(This article belongs to the Special Issue Histopathology in Cancer Diagnosis and Prognosis)
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Review

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20 pages, 2224 KiB  
Review
Cutaneous Intravascular Hematolymphoid Entities: A Review
by Emily Hatheway Marshall, Bethany Brumbaugh, Allison Holt, Steven T. Chen and Mai P. Hoang
Diagnostics 2024, 14(7), 679; https://doi.org/10.3390/diagnostics14070679 - 23 Mar 2024
Cited by 1 | Viewed by 1877
Abstract
Intravascular lymphomas are rare disease conditions that exhibit neoplastic lymphoid cells that are confined mainly to the lumens of small capillaries and medium-sized vessels. The majority of the intravascular lymphomas are of B-cell origin, but they can include NK/T-cell and CD30+ immunophenotypes. In [...] Read more.
Intravascular lymphomas are rare disease conditions that exhibit neoplastic lymphoid cells that are confined mainly to the lumens of small capillaries and medium-sized vessels. The majority of the intravascular lymphomas are of B-cell origin, but they can include NK/T-cell and CD30+ immunophenotypes. In the histologic differential diagnosis are benign proliferations such as intralymphatic histiocytosis and intravascular atypical CD30+ T-cell proliferation. In this review, we discuss the clinical, histopathologic, and molecular findings of intravascular B-cell lymphoma, intravascular NK/T-cell lymphoma, intralymphatic histiocytosis, and benign atypical intravascular CD30+ T-cell proliferation. Full article
(This article belongs to the Special Issue Histopathology in Cancer Diagnosis and Prognosis)
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