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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

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
Andrea di Bello
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 M. Basset

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
 
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
 
Valutazione della risposta alla terapia in un paziente con amiloidosi AL e basse concentrazioni della catena leggera libera monoclonale
Evaluation of response to treatment in a patient with light chain amyloidosis and low free light chain burden
<p>Evaluation of response to treatment in a patient with light chain amyloidosis and low free light chain burden. In patients with light chain (AL) amyloidosis, reduction of amyloidogenic circulating free light chain (FLC) concentration translates in improvement of organ dysfunction and is associated with an increase in overall survival. Validated criteria for hematologic response to therapy are based on FLC quantification. However, patients with a difference between involved and uninvolved FLC (dFLC) &lt;50 mg/L are not evaluable for hematologic response. Here we report the case of a 69 year old man with AL (&lambda;) amyloidosis with renal involvement, presenting a low-FLC burden (dFLC 41 mg/L) at diagnosis. After two lines of treatment, a profound reduction of amyloidogenic FLC (dFLC 0 mg/L) was associated with an improvement of organ dysfunction. This case emphasizes the role of FLC assessment in the monitoring also of patients with a low-dFLC burden.</p><p>&nbsp;</p>
Biochimica Clinica ; 43(1) e4-e6
Casi Clinici - Case Report
 
La misura delle catene leggere libere indentifica la ricaduta di malattia e orienta per una rivalutazione della tipizzazione dell’amiloide in una paziente con amiloidosi AL
Free light measurement identifies relapse and prompts to reconsider amyloid typing in a patient with AL amyloidosis
<p>The detection and quantification of amyloidogenic light-chains (LC) is necessary for diagnosis and evaluation of response in AL amyloidosis. A 69 years old woman was initially diagnosed, in another center, with AL-<span style="font-family:calibri,sans-serif; font-size:11.0pt">&lambda;</span> amyloidosis with renal and soft tissue involvement in December 2001. After 4 cycles of therapy with melphalan and dexamethasone serum and urine immunofixation were negative and, after cycle 6, complete remission was confirmed. Free light chain (FLC) ratio was normal until June 2006, when proteinuria increased, and an elevated k-FLC concentration with abnormal k/<span style="font-family:calibri,sans-serif; font-size:14.6667px">&lambda;</span>-ratio was documented. We repeated the abdominal fat aspirate for amyloid typing by immune-electron microscopy that revealed k-LC deposits. The diagnosis was AL-k. A relapse was documented and the patient was started on bortezomib and dexamethasone therapy. After 8 cycles, complete remission was obtained. In this case, FLC allowed the identification of the amyloidogenic-LC, enabling the detection of relapse.</p>
Biochimica Clinica ; 42(2) e15-e17
Casi clinici - Case report
 
Utilità del saggio Hevylite nella gestione clinica di una paziente affetta da amiloidosi AL con gammopatia biclonale
Usefulness of the Hevylite assay in the management of a patient with AL amyloidosis and biclonal gammopathy
<p>Patients with AL amyloidosis often have small monoclonal components (MCs) difficult to quantify by densitometry. IgA are the most problematic, due to anodic migration and possible masking under proteins migrating in &beta; zone. We evaluated the usefulness of the Hevylite assay (Binding Site, Birmingham UK), at diagnosis and during follow-up, in a patient with AL amyloidosis and biclonal gammopathy. At diagnosis serum immunofixation identified an IgG&lambda; and an IgA&lambda; band (the last one not reliably quantifiable in capillary electrophoresis). The &kappa; serum free light chain (FLC) concentration was 4.94 mg/L and &lambda; 26 mg/L (&kappa;/&lambda; ratio 0.19). The Hevylite test showed both IgG&lambda; and IgA&lambda; above the reference limits, with abnormal &kappa;/&lambda; ratios. After treatment, a 27% decrease in IgG&lambda; and a 56% decrease in IgA&lambda; concentration were documented by Hevylite, which was the only mean to quantify the monoclonal components in this patient.</p>
Biochimica Clinica ; 40(2) e12-e15
Casi clinici - Case report
 
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 ; 17(1)
Rassegne - Reviews