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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

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Chiara Riva
Biomedia srl
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Tel. 0245498282


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

BC: Articoli scritti da A. Minucci

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
Un caso di carenza di glucosio-6-fosfato deidrogenasi e anemia emolitica cronica non sferocitica
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and chronic non-spherocytic hemolytic anemia: a case report
A. Minucci  |  G. Canu  |  C. Zuppi  |  E. Capoluongo  | 
<p>G6PD deficiency is an X-linked disorder, due to more than 190 mutations that determine ~400 different&nbsp;phenotypes. Herein, we report a case of a symptomatic male newborn affected by severe G6PD deficiency due to a&nbsp;novel <em>&ldquo;de novo&rdquo;</em> mutation in the exon 13 of the G6PD gene: c.1465C&gt;T (named &ldquo;G6PD Buenos Aires&rdquo;)&rdquo;. G6PD activity&nbsp;is affected by NADP<sup>+</sup> amount through at least two mechanisms. On one hand, the activity of the enzyme is directly&nbsp;related to the NADP<sup>+</sup>/NADPH ratio; on the other hand, NADP<sup>+</sup> is necessary for stabilizing the enzyme in the proper&nbsp;conformation. The c.1465C&gt;T mutation, causing a proline to serine substitution at 489 amino-acid position in the&nbsp;&ldquo;NADP<sup>+</sup> structural site&rdquo;, prevents the NADP<sup>+</sup> to play the latter function, explaining the severe phenotype of the child.</p>
Biochimica Clinica ; 38(2) 151-153
Casi clinici - Case report