Publications by authors named "Gioia Di Stefano"

Article Synopsis
  • Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) is a diverse and challenging type of cancer that often has poor outcomes, especially in younger patients lacking the SMARCB1 protein.
  • Research indicated that human and mouse PTCL-NOS exhibit similar DNA changes, including the hypermethylation of T-cell genes and the hypomethylation of myeloid development genes, contributing to a complicated tumor ecosystem.
  • A study found that histone deacetylase inhibitors (HDACi), like SAHA, can effectively treat PTCL-NOS by modifying the tumor's microenvironment and improving immune function, paving the way for potential combination therapies.
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Burkitt lymphoma (BL) is characterized by a tumor microenvironment (TME) in which macrophages represent the main component, determining a distinct histological appearance known as "starry sky" pattern. However, in some instances, BL may exhibit a granulomatous reaction that has been previously linked to favorable prognosis and spontaneous regression. The aim of our study was to deeply characterize the immune landscape of 7 cases of Epstein-Barr virus-positive (EBV+) BL with granulomatous reaction compared with 8 cases of EBV+ BL and 8 EBV-negative (EBV-) BL, both with typical starry sky pattern, by Gene expression profiling performed on the NanoString nCounter platform.

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We describe an unusual case of myelodysplasia cutis in a patient with chronic myelomonocytic leukaemia.

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Dysembryoplastic neuroepithelial tumors (DNT) is a benign (World Health Organisation, WHO, grade I) glioneuronal tumor and it represent one of the most frequent neoplasm in patient affected by seizures. The epileptic neuronal activity can be determined by abnormal synchronization, excessive glutamate excitation and\or inadequate GABA inhibition. Increasing evidence suggests that the astrocytes might be involved in this process even if neurons play a relevant role.

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Alveolar soft part sarcomas (ASPSs) are rare malignant tumors representing ∼1% of all soft tissue sarcomas. Most ASPS occurring in the central nervous system are metastases. In contrast, primary intracranial ASPSs are extremely rare and only 8 cases have been previously reported in English literature.

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BACKGROUND Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by foamy histiocytes, Touton-like giant cells, and fibrosis, typically affecting the diaphyseal and metaphyseal region of the long bones but that can involve any organ or tissue. ECD is usually associated with the BRAF V600E mutation or with other molecular mutations inserted in the MAPK cascade. CASE REPORT We present the case of a 63-year-old man with a previous history of myocardial infarction who underwent an emergency splenectomy for splenic rupture after an accidental fall.

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Background: The present study aimed to classify lymphoid neoplasms according to the latest World Health Organization (WHO) classification and outlining the distribution in Nigeria of different entities. Additionally, the study describes the prevalence of lymphoid neoplasms associated with Epstein-Barr virus (EBV) infection in the Nigerian population.

Methods: We collected 152 formalin-fixed paraffin-embedded (FFPE) tissues diagnosed as lymphoma from 2008 to 2018, coming from three different institutions located within three geopolitical zone in Nigeria.

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Aims: Burkitt lymphoma (BL) is an aggressive B-cell lymphoma that, in some instances, may show a granulomatous reaction associated with a favourable prognosis and occasional spontaneous regression. In the present study, we aimed to define the tumour microenvironment (TME) in four such cases, two of which regressed spontaneously.

Methods And Results: All cases showed aggregates of tumour cells with the typical morphology, molecular cytogenetics and immunophenotype of BL surrounded by a florid epithelioid granulomatous reaction.

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Article Synopsis
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The Epstein-Barr virus (EBV) is linked to various B-cell lymphomas, including Burkitt lymphoma (BL), classical Hodgkin lymphoma (cHL) and diffuse large B-cell lymphoma (DLBCL) at frequencies ranging, by routine techniques, from 5 to 10% of cases in DLBCL to >95% in endemic BL. Using higher-sensitivity methods, we recently detected EBV traces in a few EBV-negative BL cases, possibly suggesting a "hit-and-run" mechanism. Here, we used routine and higher-sensitivity methods (qPCR and ddPCR for conserved EBV genomic regions and miRNAs on microdissected tumor cells; EBNA1 mRNA In situ detection by RNAscope) to assess EBV infection in a larger lymphoma cohort [19 BL, 34 DLBCL, 44 cHL, 50 follicular lymphomas (FL), 10 T-lymphoblastic lymphomas (T-LL), 20 hairy cell leukemias (HCL), 10 mantle cell lymphomas (MCL)], as well as in several lymphoma cell lines (9 cHL and 6 BL).

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The precise B cell of origin and molecular pathogenesis of nodal marginal zone lymphoma (NMZL) remain poorly defined. To date, due to the rarity of NMZL, the vast majority of already-published studies have been conducted on a limited number of samples and the technical approach to analyze the immunoglobulin genes was of amplifying rearranged variable region genes with the classical direct sequencing of the PCR products followed by cloning. Here, we studied the B cell Ig heavy-chain repertoires by next-generation sequencing (NGS) in 30 NMZL cases.

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Primary melanocytic tumors of central nervous system represent rare tumors arising from melanocytes of the leptomeninges. These neoplasms include focal forms like melanocytoma and primary malignant melanoma and diffuse forms like leptomeningeal melanocytosis and primary leptomeningeal melanomatosis. The clinical diagnosis remains challenging, with clinical and radiologic features overlapping with other more common diseases.

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Mesothelial/monocytic incidental cardiac excrescence (MICE) is a benign lesion composed of histiocytes and mesothelial cells, usually found during cardiac surgery. To date, no more than 50 cases are reported in literature, and pathogenesis is still unclear even if different theories have been proposed. Here we report a case of MICE encountered during aortic valve replacement with typical histological features and extensive immunohistochemical investigation.

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Objective: This study presents a review of our experience with minimally invasive mitral valve surgery (MIMVS) in patients with a previous cardiac procedure performed through a sternotomy over a 10-year period.

Methods: From November 2003 to August 2013, 173 patients (age 61.3 ± 12.

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Objectives: Triple valve surgery (TVS) is still a challenge for surgeons because of prolonged cardiopulmonary bypass (CPB) and myocardial ischaemic times. The reported operative mortality rate for TVS ranges between 2.5 and 25%; long-term survival is also diminished, with reported survival rates at 5 and 10 years of 75-82 and 61-75%, respectively.

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Background: We aimed to study the results of minimally invasive mitral valve repair performed by 5 young surgeons who were trained in mitral valve repair directly through a minimally invasive approach, and a senior surgeon who introduced the technique at our institution and was responsible for the training program.

Methods: This was a retrospective, observational cohort study of prospectively collected data from 595 consecutive patients who underwent minimally invasive mitral repair performed by 5 trainees (n = 240, 40.3%) and by our lead consultant (n = 355, 59.

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Objectives: The aim of the present study was to monitor performance and learning effects for thoracic aortic surgery. In addition, we evaluated the volume-outcome relationship of patients undergoing surgery of the thoracic aorta, comparing the results of two higher-volume surgeons (HVSs) with six lower volume surgeons.

Methods: A total of 867 thoracic aortic procedures (elective cases n = 753 and Type A acute dissection n = 114) were performed from 2003 to 2013 by eight surgeons (range 28-238 procedures) at our institution.

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Objectives: Mitral valve (MV) surgery for ischaemic mitral regurgitation (IMR) in patients with depressed left ventricular ejection fraction (LVEF) is associated with poor outcomes. The optimal surgical strategy for IMR in these patients remains controversial. The objective of this study was to compare the early mortality and mid-term survival of MV repair versus MV replacement in patients with IMR and depressed LVEF undergoing coronary artery bypass grafting (CABG).

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