Special Issue "Molecular Cytopathology"

A special issue of Journal of Molecular Pathology (ISSN 2673-5261).

Deadline for manuscript submissions: 28 February 2022.

Special Issue Editors

Prof. Dr. Giancarlo Troncone
E-Mail Website
Guest Editor
Department of Public Health, University of Naples Federico II, 80131 Naples, Italy
Interests: molecular cytopathology; lung cancer; cytopathology; next generation sequencing; thyroid neoplasms; liquid biopsy; immunotherapy
Special Issues and Collections in MDPI journals
Prof. Philippe Vielh
E-Mail Website
Guest Editor
Medipath and American Hospital of Paris, Paris, France
Interests: fine needle aspiration; interventional cytopathology; rapid diagnosis; breast; thyroid; molecular cytopathology
Special Issues and Collections in MDPI journals
Dr. Pasquale Pisapia
E-Mail Website
Guest Editor
Department of Public Health, University of Naples Federico II, Naples, Italy
Interests: molecular pathology; predictive molecular pathology in solid tumors; next generation sequencing; liquid biopsies; biomarkers; target therapies; immunotherapy
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

Cytopathology is undergoing a change. Beyond being a cost-effective screening tool for more invasive histopathological evaluations, in many settings cytopathology is a complete, independent and reliable diagnostic procedure. Molecular techniques can be nicely applied to cytological samples by taking into account specific pre-analytical issues due to a variety of many different preparations that make it difficult to ensure standardization and reproducibility. In particular, nucleic acids are of generally good quality, even when obtained from routine stained archival smears. Modern cytopathology also provides biomarker assessments to refine uncertain morphology and to yield prognostic and predictive assessments, and is a valuable tool to monitor sub-clonal tumor evolution and cancer heterogeneity, particularly in assessing resistant mechanisms to escape from targeted therapy regimens. Next generation sequencing is a modern variation of molecular cytopathology and complements morphology with a minimally invasive approach. In this Special Issue we aim to provide an update on the most recent developments in the field of molecular cytopathology, focusing on the main information that can be provided for the multidisciplinary management of solid tumors.

Prof. Giancarlo Troncone
Prof. Philippe Vielh
Dr. Pasquale Pisapia
Guest Editors

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 papers will be 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. Journal of Molecular Pathology is an international peer-reviewed open access quarterly 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 1000 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

  • cytopathology
  • molecular cytopathology
  • fine needle aspiration (FNA)
  • smears
  • cell blocks
  • next generation sequencing

Published Papers (2 papers)

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Research

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Article
Conventional Transbronchial Needle Aspiration (cTBNA) and EBUS-Guided Transbronchial Needle Aspiration (EBUS-TBNA): A Retrospective Study on the Comparison of the Two Methods for Diagnostic Adequacy in Molecular Analysis
J. Mol. Pathol. 2021, 2(4), 296-305; https://doi.org/10.3390/jmp2040025 - 09 Oct 2021
Viewed by 290
Abstract
Introduction: In recent years, there has been a growing development of molecularly targeted therapies for various types of solid tumors—in particular, in non-small-cell lung cancer (NSCLC). This has required the need for greater quantities of tissue that is able to support ancillary studies, [...] Read more.
Introduction: In recent years, there has been a growing development of molecularly targeted therapies for various types of solid tumors—in particular, in non-small-cell lung cancer (NSCLC). This has required the need for greater quantities of tissue that is able to support ancillary studies, alongside cyto-histological diagnoses for the assessment of molecular targets. Conventional TBNA (cTBNA) and EBUS-guided TBNA (EBUS-TBNA) have shown a high diagnostic yield for malignant mediastinal and/or hilar lymph node enlargement and peribronchial masses; however, few studies have compared these two procedures. We retrospectively compared TBNA patients (EBUS-TBNA and cTBNA) in order to determine the diagnostic yield and material adequacy for subsequent ancillary analyses. Materials and Methods: We retrospectively evaluated 318 patients with clinical suspicion of lung cancer or with disease recurrence. All of the patients underwent TBNA (either EBUS-TBNA or cTBNA) on enlarged mediastinal and/or hilar lymph nodes and peribronchial masses between January 2017 and June 2021 at the University Hospital of Pisa, Italy. After a definitive diagnosis, molecular analyses and an evaluation of PD-L1 expression were performed in the cases of adenocarcinoma, squamous cell carcinoma, and NSCLC, not otherwise specified (NOS). Results: EBUS-TBNA was performed in 199 patients and cTBNA was performed in 119 patients with 374 and 142 lymph nodes, respectively. The overall diagnostic yield for positive diagnoses was 59% (diagnostic rate of 61% in EBUS-TBNA, and 55% in cTBNA). Adenocarcinoma (ADC) was the most frequent diagnosis in both methods. EBUS-TBNA diagnostic adequacy was 72% for molecular analysis, while it was 55.5% for cTBNA, showing a statistical trend (p = 0.08) towards the significance of EBUS. The average percentage of neoplastic cells was also statistically different between the two methods (p = 0.05), reaching 51.19 ± 22.14 in EBUS-TBNA and 45.25 ± 22.84 in cTBNA. With regard to the PD-L1 protein expression, the percentage of positivity was similar in both procedures (86% in EBUS-TBNA, 85% in cTBNA). Conclusions: Conventional TBNA (cTBNA) and EBUS-guided TBNA (EBUS-TBNA) are minimally invasive diagnostic methods that are associated with a high diagnostic yield. However, EBUS-TBNA has an improved diagnostic adequacy for molecular analysis compared to cTBNA, and is associated with a higher average percentage of neoplastic cells. Full article
(This article belongs to the Special Issue Molecular Cytopathology)
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Review

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Review
Thyroid and Molecular Testing. Advances in Thyroid Molecular Cytopathology
J. Mol. Pathol. 2021, 2(2), 77-92; https://doi.org/10.3390/jmp2020008 - 31 Mar 2021
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Abstract
Thyroid nodules are a common finding in the adult population including the fact that more than 50% of individuals, over the age of 60, have thyroid nodules. The majority have been mostly detected with ultrasonography and 10% by palpation. The majority of these [...] Read more.
Thyroid nodules are a common finding in the adult population including the fact that more than 50% of individuals, over the age of 60, have thyroid nodules. The majority have been mostly detected with ultrasonography and 10% by palpation. The majority of these nodules are benign, whereas 5–15% of them are malignant. The pre-operative diagnosis of cancer is a critical challenge in order to ensure that each patient can be treated with the best tailored management with a reduction of unnecessary surgery for benign lesions. Fine needle aspiration cytology (FNAC) represents the first and most important diagnostic tool for the evaluation of thyroid lesions. According to the literature, FNAC is able to render a conclusive diagnosis in up to 70–80% of all cases. For the remaining 20–30% of nodules, cytological diagnoses fall into the category of indeterminate lesions mostly due to the lack of specific morphological features. According to the Bethesda system for reporting thyroid cytopathology (TBSRTC), indeterminate lesions can be sub-stratified into three different subcategories including “atypia of undetermined significance/follicular lesion of undetermined significance-AUS/FLUS”; “follicular or Hürthle cell neoplasm/suspicious for follicular or Hürthle cell neoplasm-FN/SFN”; and “suspicious for malignancy-SFM”. Many of these indeterminate lesions undergo repetition or diagnostic lobectomy. Nonetheless, the majority of these cases will have a benign diagnosis due to the fact that the rate of cancer ranges between 6 and 30%. It stands to reason that the application of ancillary technique, mostly molecular testing, emerged as a critical additional tool for those thyroid indeterminate lesions. Since the early 1990s, material collected from cytological samples yields sufficient and adequate cells for the detection of point mutation or gene fusions. Nonetheless, the further availability of new sequencing technologies such as next-generation sequencing (NGS) has led to more comprehensive molecular applications adopted now in clinical use. The current review investigates the multiple advances in the field of molecular testing applied in thyroid cytology. Full article
(This article belongs to the Special Issue Molecular Cytopathology)
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