Maria Stella Graziani

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Bruna Lo Sasso
Giampaolo Merlini
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Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

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BC: Articoli scritti da E. Capoluongo

L’avanzamento della biologia molecolare clinica nella diagnostica dilaboratorio richiede importanti attività di armonizzazione
Biochimica Clinica ; 43(1) 011-012
Editoriale - Editorial
Raccomandazioni per l’esecuzione di indagini molecolari su biopsia liquida in oncologia
Reccomendations for using of molecular assays on liquid biopsy: the first document provided by intersociety Group AIOM, SIF, SIAPEC-IAP, SIBioC.
<p>Liquid biopsy in cancer patients is mainly based on the analysis of circulating tumor DNA (ctDNA) enriched from biological fluids. This approach has more recently been proposed for the detection of oncogenic alterations in blood, cerebrospinal fluid (CSF), or urine through the use of sensitive technologies, mainly digital PCR (ddPCR) and massive parallel sequencing (MPS). Liquid biopsies have the advantage of overcoming some of the drawbacks associated with tumor biopsies, being blood samples easy to obtain from patients. Plasma ctDNA may better represent the total landscape of oncogenic alterations found across all tumor sites. Several commercially available liquid biopsy platforms based on MPS technology are currently analytically validated, with sensitivities, specificities, false negative rates, false positive rates, positive predictive values, and negative predictive values evaluated in comparison with tissue. The specificity of ctDNA is generally high while the sensitivity varies between different platforms. However, these data have not yet led to the incorporation of ctDNA into<br />routine clinical practice. The present Reccomandation represents a synthesis of the main evidences supporting use of liquid biopsy based assays in clinical setting. This inter-society approved document was prepared by a panel of expert belonging to four scientific societies who tried to provide the main useful information for the implementation of liquid biopsy-based test in clinical and laboratory practice.</p>
Biochimica Clinica ; 43(1) 106-114
Documenti SIBioC - SIBioC Documents
Armonizzazione in Medicina di Laboratorio
Harmonization in Laboratory Medicine
Biochimica Clinica ; 39(6) 546-547
Editoriale - Editorial
Diagnosi molecolare di primo livello nella fibrosi cistica: confronto tra tre metodiche commerciali
First-level molecular diagnosis of cystic fibrosis (CF): comparison of three commercial procedures
<p>CF is one&nbsp;of the most common life-threatening autosomal recessive disorders among Caucasians. To provide an useful CF test&nbsp;and improve the detection rate of CF mutation in the general population, the selection of a mutation panel should be&nbsp;considered for covering the population disease risk. The aim of this study was to evaluate and to compare the&nbsp;performance of 3 different analytical CF molecular assays: INNO-LiPA, NanoChip CF70 and xTAG Cystic Fibrosis.&nbsp;All 3 mutation panels showed a good detection rate in our geographical area. We analyzed 100 DNA samples with&nbsp;INNO-LiPA and NanoChip CF70; half of those samples were also analyzed with xTAG Cystic Fibrosis. All tests&nbsp;included the most frequent CF mutations along with Poly-T screening. As some discordant results were found, some&nbsp;samples were also analyzed by CFTR massive parallel sequencing (MPS) with MASTR v2 assay (Multiplicom) run&nbsp;on 454 GS Junior. INNO-LiPA and NanoChip were concordant for 99 out of 100 samples. Only one, carrying the&nbsp;852del22 mutation, resulted as discordant: MPS confirmed the &ldquo;wild type&rdquo; genotype previously obtained by&nbsp;NanoCHIP. On the contrary, in a sample genotyped by both INNO-LiPA and MPS as compound heterozygote (3272-&nbsp;26 A/G; 621+3 A/G), NanoChip only detected the 3272-26 A/G mutation. Finally, 47 out of 50 samples were correctly&nbsp;genotyped by xTAG Cystic Fibrosis.</p>
Biochimica Clinica ; 39(3) 193-198
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
Raccomandazioni per l'implementazione del Test genetico BRCA1/2nellepazienti con carcinoma ovarico: dall'analisi sul tessuto tumorale a quella suDNA germinale.
Recommendations for the implementation of BRCA1/2testing in ovarian cancer patients: from tumor togermline analysis. Joint document from SIBioC, AIOM, SIGU, SIAPEC-IAP
<p>Since the approval of the first polyadenosine diphosphate (ADP) ribose polymerase inhibitor (PARPi), olaparib for platinum-sensitive relapsed highgrade ovarian cancer, with either germline or somatic BRCA1/2deleterious variants, the strategies for BRCA1/2testing are dynamically changing. In fact, along with germline assay, patients are now tested for tumor BRCA1/2alsoabove all for treatment decisions. In fact, it is reported as by tumor BRCA analysis we can identify 3&ndash;9% moremutated women which can therefore benefit from PARPi therapy. Although this new type of approach looks likechallenging, in particular due to the technical and analytical difficulties regarding low quality DNA deriving fromformalin-fixed paraffin-embedded specimens, the new CE-IVD on NGS-based pipelines, can overcome these issues,allowing specialized molecular laboratories to ensure high quality results and perform the best test settings.Nevertheless, each new NGS pipeline (CE-IVD or in house) should be validated using peculiar samples along withcommercially available reference and certified materials, before being introduced in routine settings. The validationset should be appropriately chosen in order to provide unequivocal data regarding robustness of each NGStBRCApipeline. Therefore, in order to harmonize the patient and laboratory path, a group of Italian Scientific Societies[Italian Society of Clinical Chemistry (SIBioC), Italian Association of Medical Oncology (AIOM), Italian Association ofClinical Pathology (SIAPEC), Italian Society of Human Genetics (SIGU)] provided the present recommendationswhich are aimed to guide all professionals (oncologists, gynaecologists, clinical and laboratory geneticists, clinicalmolecular biologists and pathologists). The intersociety group is confident that the present paper can offer all ovariancancer women a well-organized pathway of diagnosis and treatment.</p>
Biochimica Clinica ; 17(1)
Documenti SIBioC - SIBioC Documents