2nd Edition: Pathology and Diagnosis of Gynecologic Diseases

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

Deadline for manuscript submissions: 30 June 2024 | Viewed by 3859

Special Issue Editor


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Guest Editor
Pathology Unit, Department of Diagnostic Sciences, ULSS 6 Euganea, 35131 Padua, Italy
Interests: feto-placental pathology; gynecologic pathology; breast pathology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

When approaching diagnostic pathology in gynecologic diseases, many different scenarios can be encountered: benign lesions mimicking malignant ones, and vice versa; hormonal effects (either menstrual, pregnancy, or therapy-related) alter normal histology and create artifacts; systemic diseases (such as diabetes and connective tissue diseases) influence the hormonal status and affect placentation and gestation; genetic imbalance (BRCA, p53, mismatch repair protein deficiency) can cause breast, endometrial, and ovary cancer. This female “cosmos”, in which so much is interconnected and happens as the result of something else, is complex, and diagnostic challenges, tough differential diagnosis, and pitfalls are routinely encountered.

Based on this background, this Special Issue focuses on new, different, innovative approaches to the diagnosis, use, and application of alternative/ancillary techniques (immunohistochemistry, in situ hybridization, molecular biology) and methodological perspectives.

We warmly invite experts who contribute:

  • original research articles, also on animal models;
  • review articles/mini review;
  • short communication/expert point of view;
  • case reports on rare entities, with special regard to differential diagnosis and with literature reviews.

Dr. Cinzia Giacometti
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

  • gynecologic pathology
  • breast pathology
  • placental pathology
  • diagnostic pitfalls
  • differential diagnosis
  • molecular biology
  • immunohistochemistry
  • in situ hybridization

Related Special Issue

Published Papers (5 papers)

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11 pages, 8562 KiB  
Article
Assessment of Cervicovaginal Smear and HPV DNA Co-Test for Cervical Cancer Screening: Implications for Diagnosis and Follow-Up Strategies
by Neslihan Kaya Terzi and Ozden Yulek
Diagnostics 2024, 14(6), 611; https://doi.org/10.3390/diagnostics14060611 - 13 Mar 2024
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Abstract
Objective: Cervical cancer is a major cause of cancer-related mortality, necessitating effective screening and diagnostic methods. This study aimed to assess the performance of cervicovaginal smear (CVS) and human papillomavirus (HPV)-DNA co-test. Study design: The pathology results of 225 female patients who underwent [...] Read more.
Objective: Cervical cancer is a major cause of cancer-related mortality, necessitating effective screening and diagnostic methods. This study aimed to assess the performance of cervicovaginal smear (CVS) and human papillomavirus (HPV)-DNA co-test. Study design: The pathology results of 225 female patients who underwent HPV-DNA testing with CVS between 2014 and 2022 and were subsequently diagnosed by colposcopic cervical biopsy or second CVS were retrospectively analyzed. Results: CVS samples showed atypical squamous cells of undetermined significance (ASCUS), low-grade squamous intraepithelial lesion (LSIL), high-grade squamous intraepithelial lesion (HSIL), and cervical cancer. Concordance between the first and second diagnoses demonstrated moderate agreement for LSIL. ASCUS cases exhibited a significant correlation with HPV-DNA positivity and higher-grade cervical lesions. In biopsy, sensitivity and specificity for CIN1/LSIL were 87.5% and 53.3, respectively, while for CIN2-3/HSIL, they were 83.87% and 58.49%. HPV testing showed significant correlation with histopathologic results. In women over 40 years, more intraepithelial lesions were diagnosed compared to younger women (p < 0.005). The conventional smear technique proved reliable in detecting high-grade lesions. Conclusions: Despite the limitations of our study, our results emphasize the value of HPV-DNA testing to avoid unnecessary interventions and to establish appropriate follow-up strategies. Full article
(This article belongs to the Special Issue 2nd Edition: Pathology and Diagnosis of Gynecologic Diseases)
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19 pages, 6312 KiB  
Article
Dedifferentiated Leiomyosarcoma of the Uterine Corpus with Heterologous Component: Clinicopathological Analysis of Five Consecutive Cases from a Single Institution and Comprehensive Literature Review
by Suyeon Kim, Hyunsik Bae and Hyun-Soo Kim
Diagnostics 2024, 14(2), 160; https://doi.org/10.3390/diagnostics14020160 - 10 Jan 2024
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Abstract
Dedifferentiation is a very rare phenomenon in uterine leiomyosarcoma (LMS). The aim of this study was to comprehensively analyze the clinicopathological characteristics of uterine dedifferentiated LMS (DDLMS). We reviewed electronic medical records and pathology slides from five patients with uterine DDLMS and performed [...] Read more.
Dedifferentiation is a very rare phenomenon in uterine leiomyosarcoma (LMS). The aim of this study was to comprehensively analyze the clinicopathological characteristics of uterine dedifferentiated LMS (DDLMS). We reviewed electronic medical records and pathology slides from five patients with uterine DDLMS and performed immunostaining. The mean age of the patients was 56 years. Two patients presented with abdominal discomfort, while in three cases the uterine tumors were detected on routine medical examination. The mean size of the tumors was 17.0 cm. Four patients underwent hysterectomy. The initial stages were distributed as IB (2/5), IIIC (2/5), and IVC (1/5). Post-operative concurrent chemoradiation therapy, radiation therapy, and chemotherapy were administered in one, one, and two patients, respectively. Despite post-operative treatment, three patients developed metastatic recurrences in the abdominal and pelvic organs. Recurrence-free survival time ranged between 4 and 30 months. Histologically, the differentiated areas demonstrated the classic morphology of malignant smooth muscle differentiation, whereas the dedifferentiated areas resembled undifferentiated pleomorphic sarcoma and were characterized by large pleomorphic tumor cells admixed with haphazardly arranged atypical cells with marked nuclear pleomorphism. All cases also exhibited heterologous components, including chondrosarcoma (CSA; 3/5) and rhabdomyosarcoma (2/5). In two cases, the heterologous components were initially detected in primary tumors. In three cases, the primary tumors did not exhibit any dedifferentiated or heterologous components. Instead, more than half of the recurrent tumors consisted of heterologous components. Three cases showed a sharp demarcation between the LMS and CSA components, while in two cases the dedifferentiated area imperceptibly merged with the differentiated component. Immunostaining revealed that the dedifferentiated components exhibited a lack of desmin immunoreactivity in three of the four examined cases. A subset of uterine LMS represents various amounts and types of dedifferentiation and heterologous components in both primary and recurrent tumors. Routine recognition of DDLMS and distinction from its mimickers are required for accurate diagnosis and further characterization of these rare tumors. Full article
(This article belongs to the Special Issue 2nd Edition: Pathology and Diagnosis of Gynecologic Diseases)
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13 pages, 1539 KiB  
Article
A Glimmer of Hope for Patients with a T3 Transformation Zone: miRNAs Are Potential Biomarkers for Cervical Dysplasia
by Julia Wittenborn, Eva-Marie Flasshove, Tomas Kupec, Laila Najjari, Elmar Stickeler and Jochen Maurer
Diagnostics 2023, 13(24), 3599; https://doi.org/10.3390/diagnostics13243599 - 05 Dec 2023
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Abstract
Background: This pilot study assesses the potential use of miRNAs in the triage of colposcopy patients with type 3 (nonvisible) cervical transformation zone (TZ). Type 3 TZ is a constitutional finding associated with many problems and controversies in colposcopy patient management. Here, we [...] Read more.
Background: This pilot study assesses the potential use of miRNAs in the triage of colposcopy patients with type 3 (nonvisible) cervical transformation zone (TZ). Type 3 TZ is a constitutional finding associated with many problems and controversies in colposcopy patient management. Here, we present miRNAs as a potential biomarker for the detection of CIN3 in these cases. Materials and methods: Cervical mucosa samples (CMS) were collected from patients presenting with T3 transformation zone during routine workup using the Cytobrush. Depending on the histological and cytological result, as well as the result of the routinely performed HPV PCR, patients were divided into three groups: patients with a high-grade intraepithelial lesion (CIN3) and a positive high-risk HPV test (CIN3 group), patients without an intraepithelial lesion and a positive high-risk HPV test (HPV group), and healthy controls (N = no intraepithelial lesion and negative HPV test). The cervical mucus samples included in the study were tested for their expression levels of distinct miRNAs using qPCR. Results: All investigated miRNAs were consistently detectable in every sample. The CMSs of histologically graded CIN 3 showed consistently high expression levels of all eight miRNAs, whereas the CMSs from healthy patients (N) show generally lower expression levels. However, CMSs from patients of the HPV group represented a very heterogeneous group. Conclusions: The data presented here can provide a solid basis for future research into a triage test for patients with a T3 transformation zone on the basis of commonly used clinical equipment. Full article
(This article belongs to the Special Issue 2nd Edition: Pathology and Diagnosis of Gynecologic Diseases)
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4 pages, 1510 KiB  
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Perivascular Epithelioid Cell Tumor with Uncertain Malignant Potential Arising in the Round Ligament
by Alina Badlaeva, Anna Tregubova, Diana Kruglyak, Irina Luzhina and Aleksandra Asaturova
Diagnostics 2024, 14(6), 616; https://doi.org/10.3390/diagnostics14060616 - 14 Mar 2024
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Abstract
A 12-year-old adolescent was diagnosed with a right-sided solid mass in the round ligament of the uterus. The chief complaints were abdominal pain and pelvic discomfort. She underwent laparoscopic tumor resection. Histological examination demonstrated a trabecular growth pattern of epithelioid cells with mitotic [...] Read more.
A 12-year-old adolescent was diagnosed with a right-sided solid mass in the round ligament of the uterus. The chief complaints were abdominal pain and pelvic discomfort. She underwent laparoscopic tumor resection. Histological examination demonstrated a trabecular growth pattern of epithelioid cells with mitotic activity (3 per 50 HPF), which expressed melanocytic and myoid markers. Due to aforementioned findings, a final diagnosis of perivascular epithelioid cell tumor (PEComa) with uncertain malignant potential was made. To the best of our knowledge, this localization of PEComa is considered to be infrequent with only occasionally reported cases. Full article
(This article belongs to the Special Issue 2nd Edition: Pathology and Diagnosis of Gynecologic Diseases)
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5 pages, 1310 KiB  
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Synchronous High-Grade Squamous Intraepithelial Lesion of the Fimbria of the Fallopian Tube in a 51-Year-Old Woman with Invasive Squamous Cell Carcinoma of the Uterine Cervix
by Anne-Sophie Wegscheider, Nikolas Tauber, Kirsten Graubner, Gudrun Ziegeler, Michael Behr, Christoph Lindner and Axel Niendorf
Diagnostics 2023, 13(17), 2836; https://doi.org/10.3390/diagnostics13172836 - 01 Sep 2023
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Abstract
Primary squamous cell carcinoma or squamous intraepithelial lesion of the fallopian tube is a very rare finding with only a small number of cases worldwide. We describe the case of a 51-year-old woman, undergoing an abdominal hysterectomy after the diagnosis of an HPV-associated [...] Read more.
Primary squamous cell carcinoma or squamous intraepithelial lesion of the fallopian tube is a very rare finding with only a small number of cases worldwide. We describe the case of a 51-year-old woman, undergoing an abdominal hysterectomy after the diagnosis of an HPV-associated invasive squamous cell carcinoma of the uterine cervix with the unexpected detection of an HPV16-positive high-grade squamous intraepithelial lesion of the fimbria of the right fallopian tube in the resection specimen. The finding of an isolated, HPV-associated squamous intraepithelial lesion in the fallopian tube raises the question of a de novo development in this body compartment (after exclusion of a continuous metastatic spread from the uterine cervix) by taking a virus-associated field effect into account and should encourage the inclusion of this possibility when examining the fallopian tube in a routine setting. Full article
(This article belongs to the Special Issue 2nd Edition: Pathology and Diagnosis of Gynecologic Diseases)
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