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Molecular Cytopathology
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Molecular Cytopathology

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

Deadline for manuscript submissions: closed (28 February 2022) | Viewed by 18184

Special Issue Editors

Prof. Dr. Giancarlo Troncone

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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, Collections and Topics 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, Collections and Topics 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, Collections and Topics 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. Dr. Giancarlo Troncone
Prof. Philippe Vielh
Dr. Pasquale Pisapia
Guest Editors

Manuscript Submission Information

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Keywords

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

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Published Papers (5 papers)

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Research

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10 pages, 2216 KiB  
Article
Molecular Diagnostics of Lung Cancer in Serous Effusion Samples
by Jana Fassunke, Reinhard Büttner and Marianne Engels
J. Mol. Pathol. 2022, 3(2), 78-87; https://doi.org/10.3390/jmp3020008 - 12 Apr 2022
Cited by 2 | Viewed by 2822
Abstract
For molecular diagnostics of lung cancer samples, often only a small amount of material is available. The ever-increasing number of biomarker testing is in contrast to the amount of material obtained. In that case, cytological specimens, such as serous effusion samples, are one [...] Read more.
For molecular diagnostics of lung cancer samples, often only a small amount of material is available. The ever-increasing number of biomarker testing is in contrast to the amount of material obtained. In that case, cytological specimens, such as serous effusion samples, are one possible option. Effusion samples were prepared as sediment smears or cytospins or as a cell block if needed. Suitable tumor cells areas were marked by a cytopathologist and used for molecular diagnostics, including fast track analysis, parallel sequencing, and/or fluorescence in situ hybridization. In 62 cases of malignant effusion with cells of pulmonary adenocarcinoma, molecular diagnostics were carried out. A fast-track result with the high-resolution melting method for hotspot mutation of KRAS Exon 2 and EGFR exon 21 and fragment length analysis of EGFR exon 19 was available for 43 out of 47 samples (92%). Parallel sequencing was successful for 56 out of 60 samples (93.3%). In the same period, 108 FISH analyses were performed for MET amplification, followed by ROS1, RET, and ALK translocation analysis. If only a limited amount of tissue/biopsy is available, a malignant effusion is advisable to perform on the molecular diagnostics with a high success rate. Full article
(This article belongs to the Special Issue Molecular Cytopathology)
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10 pages, 903 KiB  
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
by Francesca Signorini, Martina Panozzi, Agnese Proietti, Greta Alì, Olivia Fanucchi, Alessandro Picchi, Alessandro Ribechini, Anello M. Poma, Rossella Bruno, Antonio Chella and Gabriella Fontanini
J. Mol. Pathol. 2021, 2(4), 296-305; https://doi.org/10.3390/jmp2040025 - 9 Oct 2021
Cited by 2 | Viewed by 4026
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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16 pages, 347 KiB  
Review
Thyroid and Molecular Testing. Advances in Thyroid Molecular Cytopathology
by Esther Diana Rossi and Philippe Vielh
J. Mol. Pathol. 2021, 2(2), 77-92; https://doi.org/10.3390/jmp2020008 - 31 Mar 2021
Cited by 8 | Viewed by 3810
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)

Other

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9 pages, 2814 KiB  
Brief Report
Tissue Microarray from Cell Block Material (cbTMA)—An Additional Shot for Cytology in the Predictive Pathology Era: The PD-L1 Experience
by Antonino Iaccarino, Gennaro Acanfora, Pasquale Pisapia, Umberto Malapelle, Claudio Bellevicine, Giancarlo Troncone and Elena Vigliar
J. Mol. Pathol. 2022, 3(1), 15-23; https://doi.org/10.3390/jmp3010002 - 12 Jan 2022
Viewed by 3154
Abstract
Generally, predictive biomarker tests are clinically validated on histological formalin-fixed, paraffin-embedded (FFPE) samples. In addition to FFPE samples, cytological samples have also emerged as a useful approach to detect predictive biomarkers. However, as of today, despite the promising results reported in the recent [...] Read more.
Generally, predictive biomarker tests are clinically validated on histological formalin-fixed, paraffin-embedded (FFPE) samples. In addition to FFPE samples, cytological samples have also emerged as a useful approach to detect predictive biomarkers. However, as of today, despite the promising results reported in the recent literature, their full implementation in routine clinical practice is still lagging owing to a lack of standardized preparatory protocols, challenging assessments of cyto-histological correlation, and variable inter-observer agreement. The aim of this report was to explore the possibility of implementing a large-scale validation of predictive biomarker testing on cytological material. To this aim, we evaluated the technical feasibility of PD-L1 assessment on a cell block (CB)-derived tissue microarray (cbTMA). Consecutive and unselected CBs prepared from metastatic lymph node fine-needle cytology (FNC) samples were retrospectively collected and used for TMA construction. PD-L1 immunohistochemistry (IHC) was carried out on cbTMA sections with the companion diagnostic kit SP263 assay. TMA contained 33 CB-derived cores. A total of 20 sections were hematoxylin and eosin (H&E) stained. Overall, 29 (88%) samples were visible at least in one H&E-stained slide. Four cases out of five sections stained with the SP263 assay (4/29, 13.8%) showed PD-L1 positivity in neoplastic and/or immune cells; remarkably, no unspecific background was observed. Although our study was based on a limited and non-selected series, our findings do provide proof of concept for the use of cbTMA in predictive biomarker testing on cytological material in large-scale post-clinical trial validation studies, multicenter studies, and quality control programs. Full article
(This article belongs to the Special Issue Molecular Cytopathology)
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6 pages, 1799 KiB  
Case Report
Fine-Needle Aspiration Is Suitable for Breast Cancer BRCA Molecular Assessment: A Case Report
by Francesco Pepe, Pasquale Pisapia, Gianluca Russo, Mariantonia Nacchio, Elena Vigliar, Mario Giuliano, Umberto Malapelle, Giancarlo Troncone and Claudio Bellevicine
J. Mol. Pathol. 2021, 2(4), 319-324; https://doi.org/10.3390/jmp2040028 - 3 Dec 2021
Viewed by 2693
Abstract
Breast cancer is the most common cause of cancer-related deaths in the female population worldwide. To the best of our knowledge, breast cancer (BRCA)1/2 gene mutations have not been described yet on breast cancer cytological specimens. Here we describe the [...] Read more.
Breast cancer is the most common cause of cancer-related deaths in the female population worldwide. To the best of our knowledge, breast cancer (BRCA)1/2 gene mutations have not been described yet on breast cancer cytological specimens. Here we describe the case of a 38-year old woman with a family and personal history for breast cancer, who underwent a fine needle aspiration (FNA) procedure for a novel 30 mm lesion located in the external quadrants of the contralateral (left) breast. Cytological findings and ancillary immunostaining confirmed the diagnosis of a triple negative NST carcinoma. BRCA1/2 molecular assessment was carried out on DNA extracted from cytological (November 2020), biopsy (December 2014) and surgical resection (July 2015) specimens, as well as on the resection of a benign fibroadenoma, by using a next generation sequencing approach. Molecular analysis showed a pathogenic BRCA1 insertion (c.5266dupC; p.Q1756PfsTer74) in the cytological specimen (allelic fraction 92.0%), biopsy (allelic fraction 84.2%), surgical resection (allelic fraction 87.8%) and fibroadenoma (58.9%), demonstrating a germinal BRCA mutated status. Full article
(This article belongs to the Special Issue Molecular Cytopathology)
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