Special Issue "Selected Highlights of the 9th Molecular Cytopathology Meeting"

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

Deadline for manuscript submissions: closed (15 May 2021).

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,

Molecular cytopathology is a rapidly evolving field, based on the interplay between traditional microscopy and molecular pathology. Any molecular assay that has been developed on formalin-fixed, paraffin-embedded material can also be performed on any cytology sample with appropriate validation. However, the complexity of the preanalytical aspects, reflected in the wide range of preparations, fixation, and staining techniques adopted in different cytology laboratories, the need for a rigorous validation protocol, and the specific clinical applications require a conscious and ongoing effort to fully exploit the vast potential offered by minimally invasive cytology samples. Thus, in order to engage in a timely update on the increasing number and variety of molecular tests performed on cytologic specimens, the University of Naples Federico II has been organizing an annual molecular cytopathology meeting since 2010, providing a perspective on the evolution of molecular pathology in the field of cytopathology with updates on cytological and molecular classifications.

Even in these dramatic times of the COVID-19 pandemic, to keep the pathologists and the medical community in general updated on those aspects of modern cytopathology and molecular cytopathology, the 9th edition of the “Molecular Cytopathology Meeting”, directed by Giancarlo Troncone (University of Naples Federico II, Naples, Italy), together with Sinchita Roy-Chowdhuri (The University of Texas MD Anderson Cancer Center, Houston, Texas, USA) and Maria Dolores Lozano (University Clinic of Navarra, Pamplona, Spain), has been organized as a virtual meeting. An international perspective of the practice of molecular cytopathology aims at both engaging pathologists with the clinical and therapeutic aspects of oncology and at engaging clinicians with the challenges of molecular testing on small tissue samples and standardization of molecular cytopathology methods. This Special Issue will reflect the content of the congress sessions on thyroid, pancreatobiliary, salivary gland, lung, cervical cytology, urine, serous fluid and breast, and COVID-19.

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
  • classification
  • ancillary techniques
  • cytological reports
  • molecular reports

Published Papers (12 papers)

Order results
Result details
Select all
Export citation of selected articles as:

Review

Jump to: Other

Review
Liquid Biopsy Analysis in Clinical Practice: Focus on Lung Cancer
J. Mol. Pathol. 2021, 2(3), 241-254; https://doi.org/10.3390/jmp2030021 - 16 Jul 2021
Cited by 1 | Viewed by 802
Abstract
Lung cancer is the leading cause of cancer death worldwide. Despite the emergence of highly effective targeted therapies, up to 30% of advanced stage non-small cell lung cancer (NSCLC) patients do not undergo tissue molecular testing because of scarce tissue availability. Liquid biopsy, [...] Read more.
Lung cancer is the leading cause of cancer death worldwide. Despite the emergence of highly effective targeted therapies, up to 30% of advanced stage non-small cell lung cancer (NSCLC) patients do not undergo tissue molecular testing because of scarce tissue availability. Liquid biopsy, on the other hand, offers these patients a valuable opportunity to receive the best treatment options in a timely manner. Indeed, besides being much faster and less invasive than conventional tissue-based analysis, it can also yield specific information about the genetic make-up and evolution of patients’ tumors. However, several issues, including lack of standardized protocols for sample collection, processing, and interpretation, still need to be addressed before liquid biopsy can be fully incorporated into routine oncology practice. Here, we reviewed the most important challenges hindering the implementation of liquid biopsy in oncology practice, as well as the great advantages of this approach for the treatment of NSCLC patients. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Show Figures

Figure 1

Review
Molecular Testing of Thyroid Fine-Needle Aspiration: Local Issues and Solutions. An Interventional Cytopathologist Perspective
J. Mol. Pathol. 2021, 2(3), 233-240; https://doi.org/10.3390/jmp2030020 - 13 Jul 2021
Viewed by 559
Abstract
Molecular testing has acquired a relevant role for diagnostic and prognostic stratification of indeterminate thyroid nodules. Besides the available commercial solutions marketed in the United States, various local testing strategies have been developed in the last decade. In this setting, the modern interventional [...] Read more.
Molecular testing has acquired a relevant role for diagnostic and prognostic stratification of indeterminate thyroid nodules. Besides the available commercial solutions marketed in the United States, various local testing strategies have been developed in the last decade. In this setting, the modern interventional cytopathologist, the physician who performs the both aspirate and the morphologic interpretation plays a key role in the correct handling of fine-needle aspiration (FNA) samples not only for microscopy but also for molecular techniques. This review summarizes experiences with local approaches to the molecular testing of thyroid FNA, highlighting the role of the modern interventional cytopathologist. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Review
What Is New in Biomarker Testing at Diagnosis of Advanced Non-Squamous Non-Small Cell Lung Carcinoma? Implications for Cytology and Liquid Biopsy
J. Mol. Pathol. 2021, 2(2), 147-172; https://doi.org/10.3390/jmp2020015 - 04 Jun 2021
Viewed by 886
Abstract
The discovery and clinical validation of biomarkers predictive of the response of non-squamous non-small-cell lung carcinomas (NS-NSCLC) to therapeutic strategies continue to provide new data. The evaluation of novel treatments is based on molecular analyses aimed at determining their efficacy. These tests are [...] Read more.
The discovery and clinical validation of biomarkers predictive of the response of non-squamous non-small-cell lung carcinomas (NS-NSCLC) to therapeutic strategies continue to provide new data. The evaluation of novel treatments is based on molecular analyses aimed at determining their efficacy. These tests are increasing in number, but the tissue specimens are smaller and smaller and/or can have few tumor cells. Indeed, in addition to tissue samples, complementary cytological and/or blood samples can also give access to these biomarkers. To date, it is recommended and necessary to look for the status of five genomic molecular biomarkers (EGFR, ALK, ROS1, BRAFV600, NTRK) and of a protein biomarker (PD-L1). However, the short- and more or less long-term emergence of new targeted treatments of genomic alterations on RET and MET, but also on others’ genomic alteration, notably on KRAS, HER2, NRG1, SMARCA4, and NUT, have made cellular and blood samples essential for molecular testing. The aim of this review is to present the interest in using cytological and/or liquid biopsies as complementary biological material, or as an alternative to tissue specimens, for detection at diagnosis of new predictive biomarkers of NS-NSCLC. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Show Figures

Figure 1

Review
Molecular Tests for Risk-Stratifying Cytologically Indeterminate Thyroid Nodules: An Overview of Commercially Available Testing Platforms in the United States
J. Mol. Pathol. 2021, 2(2), 135-146; https://doi.org/10.3390/jmp2020014 - 28 May 2021
Cited by 1 | Viewed by 848
Abstract
The past decade has witnessed significant advances in the application of molecular diagnostics for the pre-operative risk-stratification of cytologically indeterminate thyroid nodules. The tests that are currently marketed in the United States for this purpose combine aspects of tumor genotyping with gene and/or [...] Read more.
The past decade has witnessed significant advances in the application of molecular diagnostics for the pre-operative risk-stratification of cytologically indeterminate thyroid nodules. The tests that are currently marketed in the United States for this purpose combine aspects of tumor genotyping with gene and/or microRNA expression profiling. This review compares the general methodology and clinical validation studies for the three tests currently offered in the United States: ThyroSeq v3, Afirma GSC and Xpression Atlas, and ThyGeNEXT/ThyraMIR. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Show Figures

Figure 1

Review
The Milan System, from Its Introduction to Its Current Adoption in the Diagnosis of Salivary Gland Cytology
J. Mol. Pathol. 2021, 2(2), 114-122; https://doi.org/10.3390/jmp2020012 - 10 May 2021
Viewed by 642
Abstract
Salivary gland masses are often encountered in the everyday practice of cytopathology. It is commonly known that the cytologic interpretation of these lesions can pose diagnostic problems due to overlapping cytomorphologic features. Fine needle aspiration (FNA) of salivary lesions shows good to excellent [...] Read more.
Salivary gland masses are often encountered in the everyday practice of cytopathology. It is commonly known that the cytologic interpretation of these lesions can pose diagnostic problems due to overlapping cytomorphologic features. Fine needle aspiration (FNA) of salivary lesions shows good to excellent sensitivity and specificity in differentiating a neoplastic from a non-neoplastic process and in diagnosing common tumors such as pleomorphic adenoma. However, its value is limited in diagnosing specific neoplastic entities especially those with well-differentiated morphology. In light of this gap, an international group of pathologists has proposed a management-oriented, tiered classification for reporting salivary gland FNA specimens, “The Milan System for Reporting Salivary Gland Cytopathology (MSRSGC)”. Similar to other classification systems, the MSRSGC scheme comprises six diagnostic categories, which were linked with a specific risk of malignancy (ROM) and management. In this review article, the author evaluated the published literature on FNA in diagnosing salivary gland lesions with the adoption of the Milan system since its introduction in the daily practice of salivary cytopathology. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Show Figures

Figure 1

Review
The Papanicolaou Society of Cytopathology System for Reporting Pancreaticobiliary Cytology: A Retrospective Review
J. Mol. Pathol. 2021, 2(2), 101-108; https://doi.org/10.3390/jmp2020010 - 05 Apr 2021
Viewed by 785
Abstract
Since the introduction of the Papanicolaou Society of Cytopathology System for Reporting Pancreaticobiliary Cytology, much experience has been gained and published concerning the utility of the diagnostic categories, malignancy risk of the categories and reproducibility of the system. This new information has resulted [...] Read more.
Since the introduction of the Papanicolaou Society of Cytopathology System for Reporting Pancreaticobiliary Cytology, much experience has been gained and published concerning the utility of the diagnostic categories, malignancy risk of the categories and reproducibility of the system. This new information has resulted in modifications to the system which will become part of the World Health Organization (WHO) System for Reporting Pancreatic Cytology. Herein we report our experience with the system and information from the published literature. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Show Figures

Figure 1

Review
The International System for Reporting Serous Fluid Cytopathology: How to Incorporate Molecular Data in Cytopathology Reports
J. Mol. Pathol. 2021, 2(2), 66-76; https://doi.org/10.3390/jmp2020007 - 30 Mar 2021
Cited by 2 | Viewed by 678
Abstract
Serous effusion cytology is widely employed in the initial evaluation of the etiology of effusions with a high diagnostic sensitivity. To standardize practices, The International System for Reporting Serous Fluid Cytology (TIS) was developed following best international practices, the most up-to-date literature, and [...] Read more.
Serous effusion cytology is widely employed in the initial evaluation of the etiology of effusions with a high diagnostic sensitivity. To standardize practices, The International System for Reporting Serous Fluid Cytology (TIS) was developed following best international practices, the most up-to-date literature, and expert consensus. In the context of this system, ancillary techniques play an important role. Besides defining basic principles in laboratory specimen handling, adequacy criteria, and a standardized reporting terminology with five diagnostic categories, TIS provides an actionable framework for using immunohistochemical and molecular testing in effusion samples, namely, in atypical, suspicious of malignant samples. For diagnostic purposes, these tests may be employed to distinguish between a primary and secondary neoplasm, to confirm a diagnosis of malignant mesothelioma vs. reactive mesothelial hyperplasia, and to correctly classify and determine the primary location of a metastasis. Theranostic molecular tests may also be used for these samples to evaluate potential therapeutic targets. Pathologists play a central role in guiding this process by determining adequacy and selecting appropriate ancillary tests. The activity in this area of research should increase in the near future as new therapeutic targets are discovered and new drugs enter the clinical practice. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Review
Challenges of ICC and FISH in the Field of Targeted Therapies from Cell Block to Smears
J. Mol. Pathol. 2021, 2(2), 55-65; https://doi.org/10.3390/jmp2020006 - 30 Mar 2021
Viewed by 955
Abstract
In the era of personalized medicine, there is an increasing demand for comprehensive and complex diagnosis using minimally invasive techniques. Nowadays, it is mandatory to integrate biomarkers in the diagnostic process, as well as in the treatment and clinical management of many cancer [...] Read more.
In the era of personalized medicine, there is an increasing demand for comprehensive and complex diagnosis using minimally invasive techniques. Nowadays, it is mandatory to integrate biomarkers in the diagnostic process, as well as in the treatment and clinical management of many cancer patients. Patients with non-small cell lung cancer (NSCLC), for instance, are frequently diagnosed in advanced stages, at a point when only cytological material or small biopsies can be obtained. This pathology constitutes an interesting challenge for the testing of biomarkers in cytology. Furthermore, there is a growing development of imaging techniques that guide non-invasive approaches to obtain small biopsies or cytological samples. This has allowed fine needle aspiration cytology and fine needle aspiration biopsy (FNAC, FNAB) to become front-line procedures in the management of patients with NSCLC. It is well known that the list of biomarkers to be tested in these patients continues to increase. Nevertheless, there are several of essential biomarkers that should always be analyzed in all patients with NSCLC, not only in non-squamous but also in some squamous carcinomas (SqCC). Some of them, such as PDL1, are tested by immunocytochemistry (ICC), while others, mainly ALK and ROS1, can be tested by ICC and confirmed using other techniques such a Fluorescence In Situ Hybridization (FISH). Other biomarkers, namely EGFR and BRAF mutations, are currently evaluated by polymerase chain reaction (PCR)-based techniques including Next-Generation Sequencing (NGS). In this review, we will address the particularities and challenges that ICC and FISH pose in different types of cytological samples from an eminently practical point of view. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Show Figures

Figure 1

Review
Collection and Handling of Thoracic Small Biopsy and Cytology Specimens for Ancillary Studies: Guidelines from the College of American Pathologists (CAP)
J. Mol. Pathol. 2021, 2(1), 23-28; https://doi.org/10.3390/jmp2010003 - 03 Mar 2021
Viewed by 841
Abstract
With a growing number of clinically relevant biomarkers needed to guide the management of patients with non-small cell lung cancer (NSCLC), pathologists are keenly aware of the need to collect adequate tissue not only for a diagnosis, but also for ancillary studies to [...] Read more.
With a growing number of clinically relevant biomarkers needed to guide the management of patients with non-small cell lung cancer (NSCLC), pathologists are keenly aware of the need to collect adequate tissue not only for a diagnosis, but also for ancillary studies to provide predictive and prognostic information. Small specimens collected by minimally invasive techniques such as fine needle aspiration and core needle biopsy often fall short in meeting adequacy requirements for lung cancer molecular biomarkers. The College of American Pathologists (CAP) recently published an evidence-based clinical practice guideline, “Collection and Handling of Thoracic Small Biopsy and Cytology Specimens for Ancillary Studies”, to help direct clinicians and pathology laboratory personnel to optimally collect and handle thoracic small specimens for ancillary testing. This review summarizes the published guideline statements and provides a brief overview of the recommendations and how they impact the practice of pathology. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Review
Practical Applications of Molecular Testing in the Cytologic Diagnosis of Pancreatic Cysts
J. Mol. Pathol. 2021, 2(1), 11-22; https://doi.org/10.3390/jmp2010002 - 07 Feb 2021
Cited by 1 | Viewed by 741
Abstract
Mucinous pancreatic cysts are precursor lesions of ductal adenocarcinoma. Discoveries of the molecular alterations detectable in pancreatic cyst fluid (PCF) that help to define a mucinous cyst and its risk for malignancy have led to more routine molecular testing in the preoperative evaluation [...] Read more.
Mucinous pancreatic cysts are precursor lesions of ductal adenocarcinoma. Discoveries of the molecular alterations detectable in pancreatic cyst fluid (PCF) that help to define a mucinous cyst and its risk for malignancy have led to more routine molecular testing in the preoperative evaluation of these cysts. The differential diagnosis of pancreatic cysts is broad and ranges from non-neoplastic to premalignant to malignant cysts. Not all pancreatic cysts—including mucinous cysts—require surgical intervention, and it is the preoperative evaluation with imaging and PCF analysis that determines patient management. PCF analysis includes biochemical and molecular analysis, both of which are ancillary studies that add significant value to the final cytological diagnosis. While testing PCF for carcinoembryonic antigen (CEA) is a very specific test for a mucinous etiology, many mucinous cysts do not have an elevated CEA. In these cases, detection of a KRAS and/or GNAS mutation is highly specific for a mucinous etiology, with GNAS mutations supporting an intraductal papillary mucinous neoplasm. Late mutations in the progression to malignancy such as those found in TP53, p16/CDKN2A, and/or SMAD4 support a high-risk lesion. This review highlights PCF triage and analysis of pancreatic cysts for optimal cytological diagnosis. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Show Figures

Figure 1

Other

Jump to: Review

Commentary
Precision Prevention: The 2019 ASCCP Risk-Based Management Consensus Guidelines for Abnormal Cervical Cancer Screening Tests and Cancer Precursors
J. Mol. Pathol. 2021, 2(3), 274-280; https://doi.org/10.3390/jmp2030023 - 09 Sep 2021
Viewed by 380
Abstract
The approach to cervical cancer prevention has evolved significantly over the past two decades. HPV immunization has decreased the specificity of screening modalities and HPV-based testing has been replacing our previously successful morphology-only approach. Additionally, there is much more emphasis on providing precision [...] Read more.
The approach to cervical cancer prevention has evolved significantly over the past two decades. HPV immunization has decreased the specificity of screening modalities and HPV-based testing has been replacing our previously successful morphology-only approach. Additionally, there is much more emphasis on providing precision prevention, rather than the previously used “one-fits-all” management strategies. A number of new biomarkers are entering clinical practice and being integrated into cervical cancer screening and management in order to enable a more personalized assessment of the risk for precancer/cancer for an individual patient. The 2019 ASCCP Risk-Based Management Consensus Guidelines expand on the concept of “equal management for equal risk”. They consider a patient’s history in addition to current test results to provide recommendations for increased surveillance/treatment in patients at higher risk for CIN3+ while minimizing interventions for lower-risk patients who have new versus persistent HPV infection. Clinical management decisions are based on immediate risk and 5-year risk estimates for CIN3+, which are determined by referencing an extensive risk table compiled by the National Cancer Institute (NCI). The course of action for a given patient is recommended by comparison of the risk in the risk database, to the predetermined clinical action thresholds. These guidelines address the need for simplification and offer some stability for the provider while being conducive to the incorporation of anticipated continued technologic advances in methods for cervical cancer prevention. Their enduring nature will allow for changes needed based on risk reduction as HPV vaccination uptake increases and vaccinated women reach screening age. Similarly, the design allows for the addition of new tests into the risk assessment calculations after their approval by applicable regulatory agencies and review/consensus approval by the ASCCP new technology and enduring guidelines workgroups. As cytopathologists, we must be familiar with the scientific advancements in primary and secondary prevention, evolving screening and management guidelines, and participate actively in the multidisciplinary approach for the prevention of cervical cancer. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Perspective
Cytopathology Practice in the COVID-19 Era: Focus on Sample Workload
J. Mol. Pathol. 2021, 2(2), 109-113; https://doi.org/10.3390/jmp2020011 - 28 Apr 2021
Cited by 1 | Viewed by 553
Abstract
Since the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak was declared a pandemic, the magnitude of coronavirus disease 2019 (COVID-19) has continued to grow, putting an unprecedented strain on all medical fields. Its effects on cytopathology workloads have been dramatic. Indeed, despite [...] Read more.
Since the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak was declared a pandemic, the magnitude of coronavirus disease 2019 (COVID-19) has continued to grow, putting an unprecedented strain on all medical fields. Its effects on cytopathology workloads have been dramatic. Indeed, despite the implementation of several laboratory biosafety recommendations, cytological screening activities and cytological sampling of patients at low risk of malignancy have been postponed to limit the risk of contagion and to lessen the strain on overwhelmed hospital facilities. In this scenario, a drastic reduction in the total number of cytological specimens has been observed worldwide. This review summarizes the current evidence of the impact of the COVID-19 pandemic on cytopathology practice by focusing on its impact on cytological sample workload. Full article
(This article belongs to the Special Issue Selected Highlights of the 9th Molecular Cytopathology Meeting)
Back to TopTop