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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 A. Urbani

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
La misura delle catene leggere libere nel liquor nella diagnosi della sclerosi multipla
Cerebrospinal fluid kappa and lambda free light chains for the diagnosis of multiple sclerosis
<p>Presently, oligoclonal band (OCB) detection is considered the gold standard for Multiple Sclerosis (MS) diagnosis. The technique is however cumbersome and requires interpretative expertise for the evaluation of dubious OCB patterns. Recently, the kappa and lambda free light chains (FLCs) measurement in cerebrospinal fluid (CSF) has been suggested as potential diagnostic tool. We describe here two case reports where the FLCs determination contributed importantly to the diagnosis. A 43 years old female with left homonym hemianopia and frontal headache showed a negative OCBs pattern showing only a single monoclonal band. CSF and serum FLCs were within the reference range while kFLC index was positive. Visual evoked potentials and magnetic resonance investigation (MRI) were suggestive of clinically isolated syndrome. A 55 year old female with visual left homonym hemianopia and mild retroorbital pain showed very similar findings with a negative pattern for OCBs, and a single monoclonal band. CSF FLCs were slightly above the upper value of the reference range and kFLC index was positive. Evoked potentials and MRI were suggestive for MS diagnosis. In conclusion, the FLCs quantification in CSF could be a valid tool to support MS diagnosis especially in the presence of unclear OCB results.</p>
Biochimica Clinica ; 42(2) e22-e25
Casi clinici - Case report