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Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada

Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Chiara Riva
Biomedia srl
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Tel. 0245498282


ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

BC: Articoli scritti da M. De Bonis

Profilo molecolare multigenico somatico di pazienti affette da cancro ovarico sieroso ad alto grado a lunga sopravvivenza e BRCA-negative
Molecular profile of BRCA-negative long survivor High Grade Serous Ovarian Cancer patients using a somatic multigene panel
<p>Introduction: High Grade Serous Ovarian Cancer (HGSOC) is the most common subtype of ovarian cancer. Approximately half of HGSOCs are characterized by inactivation of Homologous Recombination (HR) genes, such as BRCA1/2. Given the practical certainty of recurrence in relapsed HGSOC after platinum-based chemotherapy, a maintenance approach with Poly-ADP Ribose Polymerase inhibitors (PARPi) has improved progression-free survival in BRCA1/2 mutated patients. Besides BRCA1/2 defects, there are no predictive biomarkers for sensitivity to platinum-based chemotherapy and PARPi. Molecular studies of BRCA-negative long survivor patients could be of help in identifying additional biomarkers of prolonged response.<br />Methods: a total of 20 fresh frozen tumor samples obtained from long survivor BRCA-negative HGSOC patients were investigated using a Next Generation Sequencing (NGS) multigene panel. Nucleotide variants and copy number variations of ATM, BARD1, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11 and TP53 genes were tested.<br />Results: in this cohort 17 mutated subjects (17/20; 85%) with 15 pathogenic/variants of unknown clinical significance (VUS) in TP53 have been found; nucleotide variants have been identified also in ATM (n=1), PALB2 (n=1), BRIP1 (n=2), BARD1 (n=1) and NBN (n=1).<br />Discussion: the durable response to therapy observed in our patients may be multifactorial and partially driven by germline/somatic mutations in HR genes. An extended investigation is mandatory to obtain a more comprehensive overview on the genetic status of this selected cohort of patients. Querying genes other than BRCA1/2 would be of an extremely important benefit, allowing the clinicians to evaluate the correlation between molecular and clinical features and to acquire more appropriate genetic information useful in the eligibility to target therapy.</p>
Biochimica Clinica ; 45(1) 035-043
Contributi Scientifici - Scientific Papers
Studio preliminare del microbiota intestinale, cutaneo e della mucosa orale in pazienti affetti da Pemfigo Volgare e Pemfigoide Bolloso
Preliminary study of the microbiome in the gut, skin and oral mucosa of patients affected by Pemphigus Vulgaris and Bullous Pemphigoid
<p>Introduction: the study of the human microbiome is one of the most dynamic current topics in biomedical research. A significant challenge in this field is the development of cost effective method for a robust interrogation of microbiota composition. Advances in next-generation sequencing (NGS) technologies have allowed for efficient and molecular-based analysisof microbial communities. Association between diseases and imbalance of the microbial populationsare today wellinvestigated.<br />Methods: Pemphigus Vulgaris (PV) and Bullous Pemphigoid (BP) are two rare autoantibody-mediated blisteringskin diseases. In this pilot study, we characterized the intestinal, cutaneous and oral mucosal microbiota compositionsin PV/BP patients, in order to evaluate the potential role of the bacterial composition in these dermatologicaldisorders. Particularly, we performed a high-throughput sequencing analysis of the V3-V4 hypervariable regions of16S rRNA for the evaluation of bacterial composition of stool, skin and oral mucosa samples in PV (n=12) and BP(n=8) patients.<br />Results: a similar composition of the intestinal microbiota was observed in PV and BP patients. The evaluation of skin lesions revealed a prevalence of Firmicutes phylum in both patients&rsquo; groups. In the cutaneous microbiota, we identified a significant decreased abundance of Bacteroidetes phylum compared to healthy controls.<br />Conclusions: the results obtained from our standardized NGS pipeline, reinforced by correlation with other clinical and biochemicalparameters, will contribute to clarify the mechanisms of these rare diseases.</p>
Biochimica Clinica ; 43(4) 406-412
Contributi Scientifici - Scientific Papers