Recommendations for the application and follow-up of quality controls in medical laboratories

This is a translation of the paper “Recommendations for the application and follow-up of quality controls in medical biology laboratories” published in French in the journal Annales de Biologie Clinique (Recommandations pour la mise en place et le suivi des contrôles de qualité dans les laboratoires de biologie médicale. Ann Biol Clin (Paris). 2019;77:577-97.). The recommendations proposed in this document are the result of work conducted jointly by the Network of Accredited Medical Laboratories (LABAC), the French Society of Medical Biology (SFBC) and the Federation of Associations for External Quality Assessment (FAEEQ). The different steps of the implementation of quality controls, based on a risk analysis, are described. The changes of reagent or internal quality control (IQC) materials batches, the action to be taken in case of non-conform IQC results, the choice of external quality assessment (EQA) scheme and interpretation of their results as well as the new issue of analyses performed on several automatic systems available in the same laboratory are discussed. Finally, the concept of measurement uncertainty, the robustness of the methods as well as the specificities of near-patient testing and rapid tests are described. These recommendations cannot apply for all cases we can find in medical laboratories. The implementation of an objective alternative strategy, supported with documented evidence, might be equally considered

Long-term outcomes after reduced-intensity conditioning allogeneic stem cell transplantation for low-grade lymphoma: a survey by the French Society of Bone Marrow Graft Transplantation and Cellular Therapy (SFGM-TC).

International audienceBACKGROUND AND OBJECTIVES: High-dose chemotherapy with allogeneic stem cell transplantation (SCT) has proven to be a successful treatment for low-grade lymphoma (LGL), but is associated with considerable transplant-related mortality (TRM). In an effort to reduce toxic mortality while maintaining the graft-versus-leukemia effect, allogeneic SCT has been combined with a reduced-intensity conditioning (RIC) regimen. The aim of this study was to determine the outcome of patients with LGL treated with RIC allogeneic SCT. DESIGN AND METHODS: This retrospective multicenter study included 73 patients with relapsed or refractory LGL allografted after a RIC regimen between 1998 and 2005 whose data were recorded in a French registry. RESULTS: Patients received a median of three lines of therapy prior to RIC allogeneic SCT. The most widely used conditioning regimens were fludarabine + busulfan + antithymocyte globulin (n=43) and fludarabine + total body irradiation (n=21). Prior to allografting, patients were in complete response (CR; n=21), partial response (PR; n=33) or had chemoresistant disease (n=19). The median follow-up was 37 months (range, 16 to 77 months). In patients in CR, PR and chemoresistant disease, the 3-year overall survival rates were 66%, 64% and 32%, respectively, while the 3-year event-free survival rates were 66%, 52% and 32%, respectively. The 3-year cumulative incidences of TRM were 32%, 28% and 63%, respectively. The incidence of relapse was 9.6%. INTERPRETATION AND CONCLUSIONS: Although associated with significant TRM, RIC allogeneic SCT in advanced chemosensitive disease leads to long-term survival

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

International audienceSHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had 4 or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included IUGR \textless 10(th) percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended

Mise au point et évaluation d'une technique de détection de l'ADN d'A. fumigatus par PCR

A.fumigatus est un champignon opportuniste ubiquitaire, responsable de 80 à 90% des cas d'aspergilloses pulmonaires invasives (API). Cette infection, qui touche les patients immunodéprimés, reste difficile à diagnostiquer notamment du fait des limites des tests biologiques disponibles à l'heure actuelle. Le seul marqueur biologique disponible est le galactomannane (GM), un sucre de la paroi du champignon, dosé dans le sérum des patients. Néanmoins ce test présente une sensibilité variable et est peu spécifique. Ces limites concourent probablement au sombre pronostic de cette infection (mortalité de 58%). L'objectif de ce travail était donc d'adapter une technique de diagnostic de l'API par PCR en temps réel, et d'en évaluer les performances lors d'une étude clinique prospective chez des patients neutropéniques et non neutropéniques. Après une revue de la littérature, nous avons choisi une PCR ciblant l'ARN 28 S d'A. fumigatus. Cette technique a été comparée au dosage du galactomannane ainsi qu'au scanner chez 20 patients neutropéniques et 18 patients non neutropéniques. Nos résultats montrent notamment une sensibilité de 63% chez les patients neutropénique et de 50% chez le non neutropénique. Cette technique se distingue par une forte spécificité dans les deux groupes de patients étudiés (neutropéniques 100%, non neutropénique 92%). A l'issue de ce travail, la PCR trouve sa place en tant qu'outil de confirmation chez le patient neutropénique présentant un scanner normal avec un galactomannane positif, ou lors d'une suspicion clinique forte sans argument biologique. Nous constatons également que chez des patients " non neutropéniques" cette technique peut présenter un avantage par rapport au dosage du GM en première intention bien que nos effectifs ne permettent pas de conclure statistiquement. Ce travail a donc permis de cibler les contextes cliniques dans lesquels cette PCR A. fumigatus peut apporter des réponses et compléter le dignostic. Ainsi, ce travail permet l'utilisation optimale et mesurée au laboratoire de cette nouvelle technique.CLERMONT FD-BCIU-Santé (631132104) / SudocLYON1-BU Santé (693882101) / SudocSudocFranceF

Les troubles neurologiques à court et long termes chez les fulgurés. Mise en évidence de nanocomposites intracorporels bio-récalcitrants avec leurs précurseurs et leurs mécanismes de synthèse dans une fulguration collective

International audienc

Evidence for anti-tumour effect of allogeneic haematopoietic SCT in cases without sustained donor engraftment.

International audienceRemissions of haematological malignancies have been reported after allo-SCT, despite donor cell rejection, suggesting that sustained allogeneic engraftment is not mandatory to obtain a lasting anti-tumour effect. To evaluate the potential benefit from transient post-allo-SCT alloreactivity, we took advantage of the Société Française de Greffe de Moëlle et Thérapie Cellulaire (SFGM-TC) registry to colligate 14 patients with an efficient and long-lasting allogeneic (GVL) effect after allo-SCT for haematological malignancies, despite transient or absent engraftment. None received a second allogeneic graft after autologous recovery. The median duration of remission after autologous reconstitution was 118 (12-252) months. Although we cannot exclude the possibility that some patients were cured before allo-SCT, this retrospective analysis does strongly suggest that an efficient GVL effect can be observed without sustained donor engraftment, and that the transient presence of donor T cells might be sufficient to induce a powerful GVL effect