Publications by authors named "Pio Zeppa"

Fine needle aspiration biopsy (FNAB) of lymph nodes is a widely used method for evaluating lymphadenopathy. FNAB offers general advantages of rapid turnaround time, low cost and minimal morbidity, and more specific advantages in various clinical situations, such as deeply located lymph nodes or patients with significant comorbidities. The FNAB sample can be utilized for a wide range of ancillary tests, including microbiological studies, immunocytochemistry for primary and metastatic neoplasms and flow cytometry immunophenotyping in cases of lymphoid-rich samples, where there is a suspicion for lymphomas.

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Objective: Ovarian cancers exhibit very heterogeneous genetic and genomic aberrations with various pathogenetic and prognostic values. Chromosome 22 abnormalities, including del(22q) and duplications, are genetic multisystemic disorders, most commonly affecting cardiovascular, immune, and gastrointestinal systems, while tumors are rarely reported.

Methods: In this case report, we described a patient with 22q11.

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Background: Approximately 25.0% of metastatic prostate cancer patients harbour DNA damage repair mutations, including and , which are actionable targets for poly(ADP-ribose) polymerase (PARP) inhibitors. Accurate detection of /2 mutations is critical for guiding targeted therapies, but crucial pre-analytical factors, such as tissue storage duration and DNA fragmentation, drastically affect the reliability of next-generation sequencing (NGS) using real-world diagnostic specimens.

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Diagnosis of T cell lymphoproliferative disorders requires one or multiple immunophenotypic aberrations, histological tissue structure or composition modifications, and T cell clonality demonstration. Here, we present two T cell lymphoma cases, where TCR clonality was evaluated using the TRBC1 monoclonal antibody combined with a multi-parametric staining for an in-depth immunophenotype of physiological and pathological T cell populations. In the first case, this monoclonal antibody allowed exclusion of reactive lymphoproliferations, while in the second case, it was conclusive for identification of Sezary syndrome cells.

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Introduction: The aim of this project is to assess interobserver agreement for programmed death-ligand 1 (PD-L1) scoring on of non-small cell lung cancer (NSCLC) on cytological specimens in a large-scale multicenter study, by exploiting the cell block-derived tissue microarray (cbTMA) approach.

Methods: A total of 65 cell blocks (CB) diagnosed as NSCLC were retrospectively collected and selected for TMA preparation. Hematoxylin-eosin and PD-L1 stained slides were digitized and uploaded on a free web sharing platform.

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Introduction: Around 85% of non-small cell lung cancers (NSCLCs) are diagnosed at an advanced stage (IIIB to IV), where therapeutic options depend on molecular analysis. However, diagnostic material for molecular testing is often represented by cytological samples which are generally scarce and span a wide range of preparation types. Thus, the primary objective is to efficiently manage materials for molecular profiling.

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Objective: ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations represent fundamental predictive biomarkers for advanced non-small cell lung cancer (NSCLC) patients to ensure the best treatment choice. In this scenario, RNA-based NGS approach has emerged as an extremely useful tool for detecting these alterations. In this study, we report our NGS molecular records on ALK, ROS1, NTRK, and RET gene fusions and MET exon 14 skipping alterations detected by using a narrow RNA-based NGS panel, namely SiRe fusion.

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Introduction: Multiple myeloma (MM) with pulmonary extramedullary disease is rare and usually associated with poor prognosis, and no data on daratumumab-based regimens have been reported yet.

Case Presentation: Here, a 64-year-old man with pulmonary plasmacytoma received daratumumab-based regimens and has achieved a very good partial response with lung mass disappearance and overall survival of 16 months. He did not receive autologous stem cell transplantation because of several comorbidities, such as severe drug-induced neuropathy and JAK2-mutated myeloproliferative neoplasm with marked splenomegaly.

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Background: Kidney transplant recipients (KTRs) rely on immunosuppressants like mycophenolate to prevent organ rejection. However, mycophenolate often causes intestinal symptoms and inflammation in various organs, including the skin and the colon. While KTRs have an increased risk for skin cancer, the risk of colorectal cancer is not increased.

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Lymph node (LN) fine-needle aspiration cytology (FNAC) is a common diagnostic procedure for lymphadenopathies. Despite the qualities and potentialities of LN-FNAC, the number of possible pathologies and the variety of clinical contexts represent a challenge and require a continuous upgrading of the procedure according to the emerging clinical requests and new technologies. This study presents an overview of the current and future impact of LN-FNAC on the care of patients with lymphadenopathy.

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Background: The Sydney system for fine-needle aspiration biopsy of lymph nodes has five categories, stressing the role of correlation of cytopathology with clinical, ultrasound, and ancillary findings to achieve diagnosis. The five categories constitute a hierarchical system with increasing risk of malignancy from benign to atypical, suspicious, and malignant categories, which informs recommendations for further workup to achieve a final diagnosis as possible. This article analyzes 10 publications using the Sydney system and a meta-analysis of nine of these studies.

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Introduction: Mandibular osteosarcoma (MOS) is a rare malignant bone tumour known for its rapid and aggressive behaviour, particularly in cases of relapse. Early and accurate diagnosis is crucial for effective treatment.

Case Presentation: We report the case of a 48-year-old woman with recurrent MOS.

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Objectives: BAG3 (Bcl2-associated athanogene3) is able to induce the transformation of cancer-associated fibroblasts to alpha smooth muscle actin (a-SMA) positive (+) myofibroblasts. In systemic sclerosis (SSc), a-SMA+ myofibroblasts also play an important role in the progression of fibrosis in the skin and involved internal organs. The aim of the study was to investigate whether BAG3 is overexpressed in SSc and may be a biomarker of fibrogenesis.

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Recent advancements in computer-assisted diagnosis (CAD) have catalysed significant progress in pathology, particularly in the realm of urine cytopathology. This review synthesizes the latest developments and challenges in CAD for diagnosing urothelial carcinomas, addressing the limitations of traditional urinary cytology. Through a literature review, we identify and analyse CAD models and algorithms developed for urine cytopathology, highlighting their methodologies and performance metrics.

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Following the introduction of RNA-based vaccines, COVID-19 vaccine-associated clinical lymphadenopathy (C19-LAP) has been reported as a side effect. Moreover, subclinical lymphadenopathy detected on imaging (SLDI) has also been observed, mainly as incidental findings while performing screening tests on oncological patients. In these cases, surgical lymphadenectomy, fine-needle aspiration cytology (FNAC) and core needle biopsy (CNB) have been used as a valuable diagnostic tool for SLDI and C19-LAP.

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Article Synopsis
  • A study assessed the role of abnormal p53 expression in 370 patients with low-risk endometrial cancer (EC), discovering that 4.9% had p53 abnormalities, which could indicate a higher recurrence risk.
  • Among the patients, 3.6% experienced recurrences, with those exhibiting abnormal p53 expression having a 5.23 times higher odds of recurrence compared to those with normal p53.
  • Although there was no significant difference in overall survival between the two groups, the findings suggest that molecular classification for p53 abnormalities may help tailor treatment in future studies of low-risk EC patients.
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Article Synopsis
  • Efficient predictive biomarkers are essential for the success of immune checkpoint inhibitors (ICIs) in treating non-small cell lung cancer (NSCLC), with specific focus on evaluating single nucleotide polymorphisms (SNPs) in PD-L1.
  • The SNP rs822336 shows a strong correlation with positive responses to anti-PD-1/PD-L1 therapy in NSCLC patients, outperforming other SNPs like rs2282055 and rs4143815.
  • The study reveals that rs822336 influences PD-L1 expression through its location in the gene’s promoter/enhancer region, controlled by specific transcription factors (C/EBPβ and NFIC), highlighting its potential as a novel biomarker
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Introduction: Fine needle aspiration cytology (FNAC) combined with rapid on-site evaluation (ROSE) and ancillary techniques is an accurate diagnostic tool for many pathologies. However, in some cases, it may not be sufficient for actionable diagnoses or molecular testing, especially for cases that require large immunohistochemical panels or cases in which histological features are mandatory for the diagnosis. Core needle biopsy (CNB), on the contrary, provides samples that are suitable for histological features and sufficient for all ancillary studies.

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Leptomeningeal metastasis is the spread of cancer to the leptomeninges and subarachnoid space and represents a dreadful complication of cancer. The most commonly responsible neoplasms are high-grade lymphomas, leukemias, and some solid tumors, chiefly breast and lung cancer as well as melanoma. Herein we report our ten-year retrospective experience on 715 cases of cerebrospinal fluid cytology, 21 (2.

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Article Synopsis
  • The Sydney system was developed to improve standardization and reproducibility in lymph node cytopathology, with previous studies focusing on its risk of malignancy but not on how consistently different pathologists can interpret it.
  • A study involving 15 cytopathologists from 12 institutions globally evaluated 85 cases using digital whole-slide images, resulting in over 1200 diagnoses.
  • The findings indicated nearly perfect agreement with a ground truth for most diagnoses, but varying levels of concordance across categories, with the inadequate and malignant categories showing the most agreement, while suspicious and atypical categories had very slight agreement.
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