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Editor-in-chief
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


Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Chiara Riva
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it

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



BC: Articoli scritti da E. Capoluongo

Importanza dello screening per il deficit di G6PD durante l’emergenza COVID-19
Screening for G6PD deficit during COVID-19 emergency
<p>Hydroxychloroquine, a well known anti-malaria drug, is now widely used in the early treatment of patients infected with SARS-CoV-2. Since chloroquine and its derivatives may cause an acute hemolytic crisis in subjects with glucose 6-phoshpate dehydrogenase (G6PD) deficiency, with different penetrance in men and in women, we recommend that: a) before using these drugs, especially in elderly subjects, the G6PD catalytic activity should be quantitatively estimated; b) all the G6PD deficient subjects treated with chloroquine and its derivatives have to be characterized at molecular level, in order to identify G6PD deficient subjects in their families; c) to be on the safe side, the use of hydoxycholoroquine or chloroquine in carriers of severe G6PD deficiency, and infected by SARS-CoV-2, should be avoided; if treated, the patients should be alerted on the possible hemolytic risks, and care should be paid to the best laboratory indicators of such episodes (whole blood cell count, serum bilirubin, serum LDH, and hemoglobinuria).</p>
Biochimica Clinica ; 44(4) 011-012
COVID-19 - COVID-19
 
Il deficit di G6PD in Medicina di Laboratorio
G6PD deficiency in Laboratory Medicine
<p>Glucose 6-phosphate dehydrogenase has a key role in the production of the reducing power necessary to face oxidative stress and for providing ribose, which is a basic constituent of nucleic acids. It is therefore not surprising that the gene is present in all organisms, and that is also highly conserved during the evolution. The occurrence of G6PD mutants may have important consequences in carriers, depending on the class of the mutants, triggering events and various comorbidities. Acute and chronic hemolytic anemias are the most typical clinical hallmarks. The determination and characterization of G6PD can be achieved by qualitative tests, various quantitative catalytic activity determinations, and by molecular biology techniques. Sample collection and stability is not a critical problem, but some pre-analytical conditions in vivo(previous transfusions, recent blood losses) should be known by the laboratory before measuring G6PD. A number of quantitative methods is available and there is no consensus on the measuring temperature (30 or 37&deg;C) and on the reference ranges. The consequence is that the state-of-the-art of the various methods is variable, as clearly proven from recent EQAS analyses. Moreover, analytical goals have not been defined yet. In conclusion, we believe that this test needs better attention from laboratory professionals in order to offer an improved service to patients with G6PD deficiency anemias and related complications.</p>
Biochimica Clinica ; 44(3) 219-231
Rassegne - Reviews
 
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
 
Oncologia di precisione: la terminologia è importante.
Precision oncology: when the metrics does matter.
<p>Precision oncology can be considered as the application of &quot;Precision Medicine&quot; to the management of cancerpatients. Although this new chapter of the modern medicine is really exciting and many clinicians and researchers arespending some efforts in the setting of tests and clinical trials able to identify new potential biomarkers, theidentification of the specific oncogenic mutation driving the tumor growth and giving a chance of target-selective drug,still remains challenging. Sometimes the term precision medicine as wee as precision oncology can be consideredtoo simplistic: in practice, indeed, some important issues like the genetic heterogeneity of tumors, the complexity ofpathways used by different tumors, and the inevitable development of drug resistance, are not considered as a partof complete patients&rsquo; disease evolution. Therefore, in order to guide clinicians and laboratory community to harmonizethe metrics surrounding the precision oncology path, a glossary has been defined by an intersociety group. Thepresent joint document has been elaborated by the following scientific societies: Italian Society of Clinical Chemistry(SIBioC), Italian Association of Medical Oncology, Italian Association of Clinical Pathology (SIAPEC), Italian Societyof Farmacology (SIF) and is aimed to allow the research and clinical communities to familiarize with new conceptsand terminologies which are not often well defined. We underline as, in the management of the paths related to theprecision oncology, the terminology is fundamental, both for the scientific aspects and for those related to thecommunication with the patients. Therefore, below is a glossary that can be useful to all specialists in the clinical area,basic and translational research.</p>
Biochimica Clinica ; 43(3) 339-347
Documenti SIBioC - SIBioC Documents
 
Raccomandazioni per l'implementazione del Test genetico BRCA1/2 nelle pazienti con carcinoma ovarico: dall'analisi sul tessuto tumorale a quella su DNA 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 ; 43(3) 332-338
Documenti SIBioC - SIBioC Documents
 
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
F. Ceriotti  |  M. Panteghini  |  A. Tosetto  |  V. Valentini  |  L. Politi  |  R. Rolla  |  T. Guastafierro  |  T. Köken  |  E. Capoluongo  |  C. Mazzaccara  |  V. D'Argenio  |  V. D'Argenio  |  G. Lippi  |  M. Plebani  |  D. Giavarina  |  M. Berardi  |   A survey on sample matrix and preanalytical management in clinical laboratories  |  D. Bozzato  |  G. Messeri  |  M. Zaninotto  |  M. Vidali  |  A. Padoan  |  G. Parigi  |  A. Clerico  |  L. Sciacovelli  |  M. Ciaccio  |  G.L. Salvagno  |  G. Barberio  |  G. Barberio  |  G.L. Salvagno  |  M. Pepe  |  M. Panteghini  |  F. Braga  |  G. Gessoni  |  M. Montagnana  |  N. Doğan  |  M. Barberis  |  M. Barberis  |  A. Marchetti  |  F. Borrillo  |  L. Bonfanti  |  P.M. Ness  |  G. Messeri  |  S. Nannini  |  J. Queraltò  |  M. Zaninotto  |  A. Mosca  |  BM. Henry  |  G. Santini  |  A. Coglianese  |  V. D'Argenio  |  E. Fiorio  |  L. Crinò  |  M. A. V. Willrich  |  A. Modenese  |  M. Berardi  |  G. Nordera  |  M. Girelli  |  R. Tomaiuolo  |  D. Giavarina  |  R. Dittadi  |  L. Pighi  |  V. Guaraldo  |  G. Bambagiotti  |  E. Franceschini  |  R. Danesi  |  M. Locatelli  |  F. Balboni  |  D. Cosseddu  |  M. Savoia  |  S. Bernardini  |  C. Domenichini  |  M. Lamonaca  |  M. Perrone  |  M. Perrone  |   per il Gruppo di Studio Intersocietario SIBioC-SIPMeL Diabete Mellito  |  P. Pradella  |  A. Padoan  |  M.T. Sandri  |  L. Belloni  |  A. D'Avolio  |  T. Trenti  |  A. Fortunato  |  T. Trenti  | 
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