Papers by Gabriella Serio
Translational Oncology, 2019
BACKGROUND: Anaplastic lymphoma kinase (ALK) rearrangement represents a landmark in the targeted ... more BACKGROUND: Anaplastic lymphoma kinase (ALK) rearrangement represents a landmark in the targeted therapy of non-small cell lung cancer (NSCLC). Immunohistochemistry (IHC) is a sensitive and specific method to detect ALK protein expression, possibly an alternative to fluorescence in situ hybridization (FISH). In this study, the concordance of FISH and IHC to determine ALK status was evaluated, particularly focusing on discordant cases. MATERIALS AND METHODS: ALK status was tested by FISH and the IHC validated method (Ventana ALK (D5F3) CDx Assay) in 95 NSCLCs. Discordant cases were analyzed also by next-generation sequencing (NGS). The response to crizotinib of treated patients was recorded. RESULTS: Seven (7.3%) discordant cases were ALK FISH positive and IHC negative. They showed coexistent split signals pattern, with mean percentage of 15.4%, and 5′ deletions pattern, with mean percentage 31.7%. Two cases had also gene amplification pattern. In three cases (42.8 %), the polysomy was observed. The NGS assay confirmed IHC results. In these patients, the treatment with crizotinib was ineffective. CONCLUSIONS: In our discordant cases, a coexistent complex pattern (deleted, split, and amplified/polysomic) of ALK gene was observed by FISH analysis. These complex rearranged cases were not detectable by IHC, and it could be speculated that more complex biological mechanisms could modulate protein expression. These data highlight the role of IHC and underscore the complexity of the genetic pattern of ALK. It could be crucial to consider these findings in order to best select patients for anti-ALK treatment in daily clinical practice.
Lung Cancer, 2018
Malignant mesothelioma is an aggressive malignancy of the thoracic cavity caused by prior asbesto... more Malignant mesothelioma is an aggressive malignancy of the thoracic cavity caused by prior asbestos exposure. In the peritoneum the mesothelioma is an extremely rare condition. In the present preliminary study, high-resolution array-comparative genomic hybridization (a-CGH) was performed to identify genetic imbalances in a series of malignant peritoneal mesothelioma cases. Materials and methods: Between 1990 and 2008, among the cases recorded in the Apulia Mesothelioma Register, we found 22 peritoneal mesothelioma cases. CGH-array was performed on samples from all patients. Results: The CGH-array analysis revealed multiple chromosomal imbalances. Interestingly, deletion at 8p23.1 was observed in 12 cases. Furthermore, another novel deletion at 1q21 was present in 11. Often, 1q21 and 8p23.1 losses were present in the same patient (7 cases). Losses of BAP1 and CDKN2A loci were not detected. Discussion: The region at 8p23.1 contains the beta-defensin gene cluster (DEF) and 1q21 contains ubiquitin conjugating enzyme E2 (UBE2Q1). We hypotesized that the loss of function of ubiquitination, as well as of the defensins, could play an important role in the initial development and subsequent progression of mesothelioma.
Journal of experimental & clinical cancer research : CR, 2005
Primary aortic tumors are well known for both their rarity and variability in clinical presentati... more Primary aortic tumors are well known for both their rarity and variability in clinical presentation and usually are diagnosized post-operatively or by post-mortem examination. Intimal sarcoma is a recurrent histological variant and the involvement of the thoracic aorta is an unusual presentation. Angiography and computed tomography are accurate methods to evaluate aortic tumors though transesophageal echocardiography is actually used for the differential diagnosis. Here, we describe an unusual intimal sarcoma of the thoracic aorta whose clinical feature strongly mimicked a diffuse thrombotic disease.
Annali di igiene : medicina preventiva e di comunità
OA Case Reports, 2013
peritoneal mesothelioma and shares similar asbestos causation.
BMC Infectious Diseases
Background Legionella bacteria is a common cause of pneumonia, but the infection may affect sever... more Background Legionella bacteria is a common cause of pneumonia, but the infection may affect several organs in the most serious cases. A systemic involvement ab initio could be non-specific, leading to a diagnostic misinterpretation. Case presentation A 33-year-old woman had been complaining of mental confusion, restlessness, aggressiveness, and, subsequently, hirsutism. After 3 weeks, the patient developed pneumonia and died during the hospitalization. The autopsy examination revealed a multi-organ necrotizing exudative disease involving the lung, the heart and the brain. The microbiological tests of tracheal aspirate were positive for Legionella pneumophila serotype 1. Conclusion The Legionella infection may show a proteiform clinical course and an extra-pulmonary manifestation may be the first sign of the disease. Herein, we report a case of Legionella infection in a young female, presenting with non-specific neurological symptoms and hirsutism at onset, misdiagnosed as a metaboli...
Frontiers in Oncology, 2022
Mesothelioma is a rare malignant neoplasm with poor survival. It mainly affects the pleura (90%) ... more Mesothelioma is a rare malignant neoplasm with poor survival. It mainly affects the pleura (90%) but can arise in all serous cavities: peritoneum (5-10%), pericardium and tunica vaginalis testis (<1%). The onset of pleural mesothelioma is strictly related to asbestos exposure with a long latency time. The causal link with asbestos has also been suggested for peritoneal mesothelioma, while the importance of exposure in the onset of pericardial and tunica vaginalis testis mesotheliomas is not well known. Mesothelioma remains an aggressive and fatal disease with a five-year mortality rate higher than 95%. However, new therapeutic approaches based on molecular-targeted and immunomodulatory therapies are being explored but have conflicting results. In this context, the identification of critical targets appears mandatory. Awareness of the molecular and physiological changes leading to the neoplastic degeneration of mesothelial cells and the identification of gene mutations, epigenetic...
Diagnostic Pathology, 2021
Introduction Diffuse malignant peritoneal mesothelioma (DMPM) is a rare malignant neoplasm with p... more Introduction Diffuse malignant peritoneal mesothelioma (DMPM) is a rare malignant neoplasm with poor survival that shares some similarities with the best-known pleural variant, pleural mesothelioma. The recent European Reference Network on Rare Adult Cancers (EURACAN)/International Association for the Study of Lung Cancer (IASLC) proposals attempted to improve the histological diagnosis and patient risk stratification. Herein, we investigated whether the pathology recommendations and suggestions of the pleural proposals were applicable to diffuse malignant peritoneal mesothelioma. Methods Fifty multiple laparoscopic biopsies of DMPM were consecutively collected at the Pathology Unit of the University of Bari. A two-tier system, i.e., low, and high grade, was used to categorize 34 epithelioid DMPMs. Architectural patterns, cytological features and stromal changes were also reported. Immunohistochemistry was performed for BRCA1-associated protein 1 (BAP1), programmed death-ligand 1 (P...
Advanced head and neck squamous cell carcinoma (SCC) is a disease that metastasizes predominantly... more Advanced head and neck squamous cell carcinoma (SCC) is a disease that metastasizes predominantly to the locoregional lymph nodes. The presence of regional metastases is crucial for staging, therapeutic decision making and prognosis. For patients with clinically negative neck nodes, there are two major management strategies: elective neck dissection or follow-up. Sentinel lymph node biopsy (SLNB) using radioisotope injection has been developed for breast cancer and cutaneous melanoma, and this method is considered the gold standard for SLNB, although in head and neck cancer, the method is not widely accepted because the radioisotope injection has to be performed under general anesthesia. This study aimed to evaluate the diagnostic reliability of sentinel lymph node biopsy in SCC of the larynx, identified using Rouvière’s scheme dissection, and that can be routinely excised without contrast-enhancement. A systematic clinical and pathological review was performed of 1500 cases of lary...
Journal of Preventive Medicine and Hygiene, 2019
Summary The three main sources of asbestos pollution in the city of Bari, Puglia, the former Fibr... more Summary The three main sources of asbestos pollution in the city of Bari, Puglia, the former Fibronit asbestos factory, the Torre Quetta beach, the former Rossani barracks and the history of their reclamation are described. The results of cohort studies on factory workers and case-control studies on asbestos exposure to the resident population and the onset of mesothelioma are also reported. Finally, the data of the regional register of mesothelioma related to residents in the city of Bari and four new cases with environmental exposure due to the former Rossani barracks are presented.
Endometrial cancer, 2021
lymphadenectomy were negatively correlated with DFS, while LVSI, mitotic count, higher degree of ... more lymphadenectomy were negatively correlated with DFS, while LVSI, mitotic count, higher degree of nuclear atypia, FIGO stage II-IV disease, and suboptimal surgery significantly decreased OS. Conclusion* LVSI and higher degree of nuclear atypia appear to be prognostic indicators for uLMS. Lymphadenectomy seems to have a significant effect on DFS but not on OS.
Prevention of gynaecologic cancer, 2021
Introduction/Background* Implementation of NGS panel sequencing (instead of single/double gene/s ... more Introduction/Background* Implementation of NGS panel sequencing (instead of single/double gene/s sequencing) into standard genetic testing for cancer susceptibility generates new and unexpected data on spectrum, proportion and combination of susceptibility genes´mutations. Methodology We analyzed results of genetic testing in healthy patients referred to our survailance office, their pedigrees and clinical manifestations to identify and describe clinical meaning of combined heterozygosity in different cancer suceptibility genes. We also discusse prophylactic measures in these double heterozygotes. Result(s)* In the group of 455 individuals who underwent genetic testing for known or suspicious genetic susceptibility to cancer, we identify 11 (2.4%) double heterozygotes, i.e. individual harbouring germ-line pathologic mutations in two high penetrance susceptiblity genes. 8 of them have mutations in either BRCA1/2 genes and mismatch-repair genes (MLH1 or MSH2), 3 remaining have combination of BRCA1 mutation and RAD51, VHL and CHEK2, respectivelly. 3 out of 11 double heterozygotes developer cancer through median followup of 34 moths, 2 breast cancer, 1 colorectal cancer. Pedigree analysis does not allow for individualisation of risk calculation. Conclusion* Double heterozygotes are known from literature, till the era of NGS panel sequencing, they wer thought to be extremelly rare. These individuals, however, represent a substantional proportion of our patients and need individualised scenario of survailance with respect to different spectrum of risks compared to single mutation carriers.
Journal of Clinical & Experimental Pathology, 2018
Role of BRCA1 and PARP1 has been studied by immunohistochemistry in a cohort of ovarian cancers. ... more Role of BRCA1 and PARP1 has been studied by immunohistochemistry in a cohort of ovarian cancers. Their expression has been related to overall survival and disease free disease. Objective: To investigate the clinical outcome of an heterogeneous population of ovarian cancers as respect to immunohistochemical expression of BRCA1 and PARP1 in order to identify a histological threshold for positivity and negativity and to predict possible candidates to anti-PARP therapy. Material and methods: 97 cases of ovarian cancers were collected in a multicentre study and immunohistochemically tested for BRCA1 and PARP1. The immunohistochemical expression of BRCA1 and PARP1 was studied on formalin-fixed and paraffin-embedded samples. Overall survival and disease free survival were evaluated. Statistical analysis was performed including cancers of all types and a subgroup of high grade serous carcinoma that represents the predominant histotype. Results: A possible threshold to discriminate positive and negative cases has been proposed. BRCA1 and PARP1 immunohistochemical expression did not significantly correlate with overall survival. The evaluation of survival for the combinations of BRCA1+/-, PARP1+/-showed a longer patient survival when the positivity and negativity were in contrast compared to when they were in agreement. Conclusions: Although BRCA1 and PARP1 expression do not appear to be correlated with overall survival, further investigation and follow-up together with a larger number of cases could clarify the function; the standardised immunohistochemical method could better select the patient group sensitive to PARP1 inhibitors.
BMC Research Notes, 2019
Objective Asbestos was widely used in construction in both a friable and a compact form until the... more Objective Asbestos was widely used in construction in both a friable and a compact form until the 1990s, before its use was banned. Today, many of these materials are still in situ and represent a source of risk for construction workers. The objective of the study was to analyse the cases of mesothelioma arising among construction workers registered in the Apulia regional register of mesothelioma. Results For the period 1993–2018, there were 178 male cases, and 10.2% of the cases were present in the regional register. The average age at diagnosis was 64.7 years. The site was pleural in 96.06% of cases, with a diagnosis of certainty in 86.5% of the total cases and 61.8% of cases with epithelial histology. The average latency is 43.9 years. In 75.2% of cases, the exposure began between 1941 and 1970, with an average duration of 24.3 years. The age at the start of exposure in 68.5% of cases is between 8 and 20 years. The ORs were 2.5 (C.I. 95% 1.01–6.17) for the epithelioid histotype a...
Environmental Health, 2019
Objective: to reflect about the clinical practice of nurses in the care of frail elderly. Method:... more Objective: to reflect about the clinical practice of nurses in the care of frail elderly. Method: this is a theoretical reflection supported in the literature. Results: the fragility syndrome has reached worldwide repercussions; even so the frail elderly still lacks many strategies to maintain their autonomy and independence. To promote clinical appropriate practice to the frail elderly, nurses must be knowledgeable of the aging process and be updated with regard to the scientific evidence of weakness: the concept, diagnosis, prevention measures, interventions, assessments and results. Conclusion: this reflection puts us ahead of the nursing performance challenge in the transformation and adaptation of their clinical practice in the care of the frail elderly or fragility process. Descriptors: Geriatric Nursing; Frail Elderly; Evidence-Based Practice; Patient-Centered Care; Nursing Processes. RESUMO Objetivo: refletir sobre a prática clínica do enfermeiro no cuidado ao idoso fragilizado. Método: trata-se de uma reflexão teórica apoiada na literatura pertinente. Resultados: a síndrome da fragilidade tem alcançado repercussões em nível mundial, mesmo assim o idoso fragilizado ainda carece de muitas estratégias para a manutenção de sua autonomia e independência. Para promover a prática clínica adequada ao idoso fragilizado, o enfermeiro deve ser conhecedor do processo de envelhecimento e estar atualizado com relação às evidências científicas sobre fragilidade: o conceito, o diagnóstico, as medidas de prevenção, as intervenções, as avaliações e os resultados. Conclusão: essa reflexão nos coloca à frente do desafio da atuação da enfermagem na transformação e adequação de sua prática clínica no cuidado ao idoso frágil ou em processo de fragilização. Descritores: Enfermagem Geriátrica; Idoso Fragilizado; Prática Baseada em Evidências; Assistência Centrada no Paciente; Processos de Enfermagem. RESUMEN Objetivo: reflexionar sobre la práctica clínica del enfermero en el cuidado al anciano debilitado. Método: se trata de una reflexión teórica apoyada en la literatura pertinente. Resultados: el síndrome de la debilidad ha alcanzado repercusiones a nivel mundial, sin embargo, el anciano debilitado aún carece de muchas estrategias para la manutención de su autonomía e independencia. Para promover la práctica clínica adecuada al anciano debilitado, el enfermero debe conocer el proceso de envejecimiento, y estar actualizado con relación a las evidencias científicas sobre debilidad: el concepto, el diagnóstico, las medidas de prevención, las intervenciones, las evaluaciones y los resultados. Conclusión: esa reflexión nos coloca al frente del desafío de la actuación de la enfermería en la transformación y adecuación de su práctica clínica en el cuidado al anciano débil o en proceso de debilidad. Descritores: Enfermería Geriátrica; anciano debilitado; Práctica basada en evidencias; Asistencia centrada en el paciente; Procesos de Enfermería.
F1000Research, 2018
Background. Salivary glands tumours are uncommon, frequently benign lesions, prevalently located ... more Background. Salivary glands tumours are uncommon, frequently benign lesions, prevalently located in the parotid gland (80%). Surgical decision making is based on the patient’s history, examination findings, imaging and fine needle aspiration (FNA). FNA is a pre-operative method with good ability in detecting malignancy. During surgery, therefore, Frozen section (FS) can differentiate benign lesions from malignant tumours, to reduce incorrect treatments, to increase the chances of conservative surgery and to better evaluate surgical margins. The aim of our study is to demonstrate the accuracy of the FS procedure in surgery of the salivary glands and to stress the need for dedicated pathology units specialized in lesions of the oral cavity. Methods. The study included 499 patients who underwent surgery from May 2005 and October 2014. An intra-operative frozen section procedure was done for 288 of them. All frozen sections were compared with the final results. The cases were classifi...
Critical Care, 2015
Background Prolonged controlled mechanical ventilation depresses diaphragmatic efficiency. Assist... more Background Prolonged controlled mechanical ventilation depresses diaphragmatic efficiency. Assisted modes of ventilation should improve it. We assessed the impact of pressure support ventilation versus neurally adjusted ventilator assist on diaphragmatic efficiency. Method Patients previously ventilated with controlled mechanical ventilation for 72 hours or more were randomized to be ventilated for 48 hours with pressure support ventilation (n =12) or neurally adjusted ventilatory assist (n = 13). Neuro-ventilatory efficiency (tidal volume/diaphragmatic electrical activity) and neuro-mechanical efficiency (pressure generated against the occluded airways/diaphragmatic electrical activity) were measured during three spontaneous breathing trials (0, 24 and 48 hours). Breathing pattern, diaphragmatic electrical activity and pressure time product of the diaphragm were assessed every 4 hours. Results In patients randomized to neurally adjusted ventilator assist, neuro-ventilatory efficien...
Analytical and quantitative cytology and histology / the International Academy of Cytology [and] American Society of Cytology, 1994
Eighteen cases of astrocytomas diagnosed as grades 1-3 of malignancy were studied with analytical... more Eighteen cases of astrocytomas diagnosed as grades 1-3 of malignancy were studied with analytical morphometry to determine if different grades can be discriminated by size and shape parameters related to the nuclei. The shape analytical morphometry system was used to calculate dimensional measurements and express shape irregularities through quantitative parameters. With the shape asymmetry evaluator procedure, nuclear symmetry was evaluated. All parameters subjected to univariate and multivariate strategies were the same in easily distinguishing grade 1 from the others. Grades 2 and 3 could not be discriminated completely by either dimensional or with analytical parameters revealing strong similarities of nuclear shape and dimensions.
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Papers by Gabriella Serio