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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 J. Ripepi

Analisi dei livelli trascrizionali di ciclina D1 nello studio delle discrasie plasmacellulari: revisione sistematica della letteratura
Analysis of cyclin D1 mRNA expression levels in plasma cell dyscrasias: a systematic review of published literature
<p>Overexpression of cyclin D1 (CCND1) occurs often in tumoral plasma cells, mainly &ndash; but not exclusively &ndash; as a result of the presence of the t(11;14) translocation. Of note, CCND1 mRNA overexpression or the presence of the t(11;14) translocation was shown to impact on the response to anti-plasma cell drugs and influence prognosis, both in patients with multiple myeloma and with immunoglobulin light chain (AL) amyloidosis. In this study, we performed a systematic revision of published literature on molecular assays to measure CCND1 transcript levels in plasma cell dyscrasias, in order to describe currently available assays, their technical characteristics and main applications. Relevant scientific articles were search on PubMed as of October 2020 using combinations of appropriate key words. Of 165 unique studies retrieved, 11 articles fulfilled the inclusion criteria and were further analyzed. Overall, 8 different molecular assays were described and characterized. Most of the studies focused on multiple myeloma, with some studies including also MGUS, plasma cell leukemia and/or AL amyloidosis. Assay design, technical validation and field of application of each assay were systematically reviewed. As more knowledge is gained about the impact of CCND1 expression levels on the biology of tumoral plasma cells and their response to anti-plasma cell drugs, including novel agents specifically targeting t(11;14)-positive clones, molecular assays to quantify CCND1 expression levels in tumoral plasma cells may become a useful complementation to molecular cytogenetics, towards a precision medicine approach to diagnose and treat plasma cell disorders which is based on laboratory medicine.</p>
Biochimica Clinica ; 45(3) 230-241
Rassegne - Reviews
 
Una complicata valutazione della risposta alla terapia in un paziente con malattia da deposito di catene leggere libere
A complicated evaluation of the response to the therapy in a patient with light chain deposition disease
<p>Light chain deposition disease (LCDD) is characterized by tissue deposition, mostly in the kidney, of monoclonal immunoglobulin light chains (LCs), causing renal dysfunction and end-stage renal disease. The main goal of therapy is the reduction of LCs concentration, that can be obtained using chemotherapy approaches. We report the case of a 28-year-old man with LCDD (IgG&kappa; type) and underlying multiple myeloma who, after three ineffective lines of therapy, started a treatment with daratumumab, a monoclonal antibody (mAb, IgG1&kappa; type) drug, recently introduced for multiple myeloma treatment. The drug seemed effective but a IgG&kappa; spike remained visible at standard immunofixation. To discriminate the drug from the patient monoclonal component, immunofixation with Hydrashift system was used. This tool identified the visible IgG&kappa; as mAb drug and complete response was documented. This case showed the utility of new clinical assays for the evaluation of response to therapy in patients treated with mAb drugs.</p>
Biochimica Clinica ; 44(4) e30-e33
Casi Clinici - Case Report
 
I marcatori di clonalità per la diagnosi e la valutazione della risposta alla terapia nell’amiloidosi da catene leggere: il ruolo del laboratorio
Clonal biomarkers for diagnosis and response to treatment assessment in light chain amyloidosis: the role of the laboratory
<p>Serum monoclonal components, Bence-Jones proteinuria (PBJ) and free light chains (FLC) are clonal biomarkers for diagnosis and response assessment in light chain (AL) amyloidosis. Two clinical reports are presented here toi llustrate the utility of these biomarkers. The first case is a patient with AL &kappa;appa renal amyloidosis. Serum and urine immunofixation were negative and the FLC ratio was abnormal. Immunoelectron microscopy on tissue biopsy was negative. Amyloid typing was achieved by mass spectrometry on fat pad aspirate. The second case is a patient with AL cardiac amyloidosis with PBJ lambdaand low concentration of amyloidogenic FLC (32 mg/L). Urine capillary electrophoresis was used to assess response to treatment. The progressive reduction of PBJ after treatment was accompanied by reduction of NT-proBNP and improvement of clinical conditions. Clonal biomarkers are irreplaceable tools in management of AL amyloidosis. There is a need for more sensitive techniques for identification of monoclonal FLC on serum and urine.</p>
Biochimica Clinica ; 44(2) E11-E15
Casi Clinici - Case Report
 
Le troponine cardiache nelle amiloidosi sistemiche
Cardiac troponins in systemic amyloidosis
<p>Systemic amyloidosis is an increasingly recognized cause of heart failure. The two most common forms of amyloidosis involving the heart are AL (caused by monoclonal immunoglobulin light chains) and ATTR (caused by wild-type or variant transthyretin) amyloidosis. Involvement of the heart is by far the most important prognostic determinant, and its severity is easily and accurately stratified by cardiac biomarkers (natriuretic peptides and troponins). In AL amyloidosis, cardiac troponins are also useful in the design of the therapeutic strategy (excluding fragile patients from autologous stem cell transplantation) and in identification of cardiac progression. Response and progression criteria are still lacking in ATTR amyloidosis, and studies addressing this topic are warranted.</p>
Biochimica Clinica ; 44(2) S074-078
Opinioni - Opinions
 
Un caso di gammopatia monoclonale di significato renale
A case of monoclonal gammopathy of renal significance
<p>Monoclonal gammopathy of renal significance (MGRS) is a condition defined by the presence of a small-B cell clone causing a renal disease trough deposition in renal tissues of the monoclonal component (MC) secreted by the B cells. Since MGRS is associated with several types of renal diseases, characterization of renal damage caused by protein deposition is important to define the correct diagnosis as well as the identification of the MC. Adult Fanconi Syndrome (FS) is characterized by the presence of a MC and damage in the proximal tubule with impaired small molecules transport. We report the case of a 32 years old man with moderate kidney failure, normoglycemic glycosuria and hypouricemia. Further investigations revealed hypophosphoremia and phosphaturia; an IgG&kappa; MC was detected by immunofixation. The kidney biopsy confirmed FS suspect. This case underlines that the results of the biochemical analysis carried on for the diagnosis of FS, need to be confirmed by histopathologic analysis.</p>
Biochimica Clinica ; 44(2) E08-E10
Casi Clinici - Case Report