19 research outputs found

    Intron 4-5 hTERT DNA Hypermethylation in Merkel Cell Carcinoma: Frequency, Association with Other Clinico-pathological Features and Prognostic Relevance

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    Merkel cell carcinoma (MCC) is an aggressive skin tumor with neuroendocrine differentiation, mainly affecting elderly population or immunocompromised individuals. As methylation of the human telomerase reverse transcriptase (mhTERT) has been shown to be a prognostic factor in different tumors, we investigated its role in MCC, in particular in intron 4-5 where rs10069690 has been mapped and recognized as a cancer susceptibility locus. DNA methylation analysis of hTERT gene was assessed retrospectively in a cohort of 69 MCC patients from the University of Bologna, University of Turin and University of Insubria. Overall mortality was evaluated with Kaplan-Meier curves and multivariable Royston-Parmar models. High levels of mhTERT (mhTERThigh) (HR\u2009=\u20092.500, p\u2009=\u20090.015) and p63 (HR\u2009=\u20092.659, p\u2009=\u20090.016) were the only two clinico-pathological features significantly associated with a higher overall mortality at the multivariate analysis. We did not find different levels of mhTERT between MCPyV (+) and (-) cases (21 vs 14, p\u2009=\u20090.554); furthermore, mhTERThigh was strongly associated with older age (80.5 vs 72 years, p\u2009=\u20090.026), no angioinvasion (40.7% vs 71.0%, p\u2009=\u20090.015), lower Ki67 (50 vs 70%, p\u2009=\u20090.005), and PD-L1 expressions in both tumor (0 vs 3%, p\u2009=\u20090.021) and immune cells (0 vs 10%, p\u2009=\u20090.002). mhTERT is a frequently involved epigenetic mechanism and a relevant prognostic factor in MCC. In addition, it belongs to the shared oncogenic pathways of MCC (MCPyV and UV-radiations) and it could be crucial, together with other epigenetic and genetic mechanisms as gene amplification, in determining the final levels of hTERT mRNA and telomerase activity in these patients

    LYMPHOMAS OF ORAL CAVITY. CLINICALPATHOLOGICAL STUDY OF 46 CASES AND REVIEW OF LITERATURE.

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    Introduction: Although several clinico-pathologic studies on extra-nodal oral cavity lymphomas have been reported, our understanding of these tumours is incomplete. This is mainly because oral lymphomas are quite rare and the opportunity to apply modern techniques to their classification is limited. Propose: The aim of this study was to determinate both the histotype and phenotype of lymphomas presenting in the oral cavity. Materials and methods: Cases were classified according to the World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues 2001. Immunohistochemical stains were performed on tissue microarrays (TMA). Results: Forty-four cases of non-Hodgkin\u2019s lymphoma (NHL) and 2 cases of primitive Hodgkin\u2019s lymphoma (HL) were observed, with a slight female predominance (21M; 25F). Forty cases of NHL were primitive of the oral cavity, while six cases were secondary lesions. NHL were divided into five groups: 1) diffuse large B-cell lymphoma (DLBCL: 33 cases); 2) follicular lymphoma (FL: 5 cases); 3) extranodal marginal zone B-cell lymphoma (MZL: 3 cases); 4) mantle cell lymphoma (MCL: 1 case); 5) peripheral T-cell lymphomas, not otherwise specified (PTCL, NOS: 2 cases). HL occurred in two males, aged 25 and 65 years respectively. Both cases were diagnosed as nodular sclerosing HL. The lesions were variably located in different sites of the oral cavity, commonly affected sites being the soft and hard palate and tongue. The most frequent clinical appearance was a submucosal mass (34 cases). Dental waving was present in 5 cases and actinomycotic infection in one. Six cases appeared as slightly raised whitish lesions. Two cases (1 NHL and 1 HL) appeared in HIV infected patients. Conclusion: The present series shows that malignant lymphomas of the oral cavity more often represent de novo primary growths. The most frequent event is DLBCL affecting elderly patients in the palate or tongue. Although rare, HL should be considered among primary oral cavity lymphomas

    Transbronchial cryobiopsy: an effective tool in the diagnosis of lymphoproliferative disorders of the lung

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    Introduction: Malignant lymphoproliferative disorders are rarely observed in the lung and, considering their clinical and radiological heterogeneity, diagnosis is often difficult and may require invasive methods. Transbronchial cryobiopsy has been confirmed as a new tool in the diagnosis of interstitial lung diseases, given its fewer risks and costs compared to surgical approach. This study is aimed at assessing the effectiveness of cryobiopsy in the diagnosis of lymphoproliferative disorders.Materials and methods: Among 970 consecutive cryobiopsies, performed between January 2011 and June 2018 at Morgagni Hospital of Forli, Italy, 13 cases of lymphoproliferative disorders were collected.Results: In 12 out of 13 cases a precise pathological diagnosis could be reached with the support of immunohistochemistry (IHC) and molecular ancillary studies. In the only case in which cryobiopsy did not lead to a definitive diagnosis, the subsequent surgical biopsy also did not help to clarify the diagnosis. Severe bleeding or pneumothorax did not occur in any case. On average, five biopsies were obtained per case, with a mean total area of 1161 mm(2), and only 5 out of 65 specimens were inadequate for diagnosis. Instant freezing did not produce tissue artefacts nor did it affect IHC and molecular tests. In all cases the amount of available tissue was sufficient for all ancillary studies.Conclusions: Transbronchial lung cryobiopsy is safe and effective for diagnosis in patients with suspected pulmonary involvement by lymphoproliferative disorders and it should therefore be considered a valid alternative to surgical biopsy in such cases

    Intravascular large B cell lymphoma presenting in the lung: the diagnostic value of transbronchial cryobiopsy

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    Background and objective: Intravascular large B-cell lymphoma is a distinct subtype of mature B-cell neoplasms, with uncommon primary presentation in the lungs. Diagnosis could be very difficult due to the lack of detectable tumor masses and it is usually made by surgical lung biopsy or autopsy examination. Methods: Two patients occurred primarily with interstitial lung disease and underwent a pulmonary biopsy using cryoprobes. Results: The pathological analysis of the lung biopsies revealed in both cases a conclusive diagnosis of intravascular large B-cell lymphoma with primary lung involvement and patients have been safely diagnosed using transbronchial cryobiopsy for the first time in the literature. Conclusions: Transbronchial cryobiopsy could be used as valid surrogate for surgical lung biopsy in lymphoprolipherative lung disorders (including intravascular lymphomas), as allows larger samples of tissue, greater diagnostic yield, no crush artifacts and much less complications than surgical biopsy

    Post-radiotherapy vascular lesions of the breast: immunohistochemical and molecular features of 74 cases with long term follow up and literature review

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    A wide range of post-radiotherapy vascular lesions can occur, ranging from Benign lymph-angiomatous papule of the skin (BLAP), to Atypical vascular Lesions (AVL) and post-RT angiosarcomas (Post-RT AS). The relationship between benign and malignant post-RT breast lesions and their prognostic features is still controversial

    An HIV + patient with visceral enlarged lymph nodes

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    An HIV positive patient with enlarged visceral lymph nodes was diagnosed to be affected by visceral leishmaniasis. Transesophageal endoscopic ultrasound with fine needle aspiration, a diagnostic approach used when mediastinal or intra-abdominal lymphadenopathy is evident, was the first diagnostic test
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