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Resume Introduction La prescription de certaines therapies anticancereuses ciblees est desormais conditionnee par determination de marqueurs moleculaires qui doit s’effectuer dans les meilleurs delais pour qu’il n’y ait pas de perte de chance pour les patients dans leur prise en charge therapeutique. En 2009, la plateforme de genetique moleculaire des cancers (PGMC) d’Aquitaine a mis en place un programme pour evaluer et ameliorer l’organisation des analyses moleculaires des cancers. Les objectifs etaient de decrire le circuit du prelevement, l’organisation des laboratoires d’anatomie-cytopathologie (ACP) correspondants de la PGMC et determiner les delais entre les differentes etapes du circuit d’une analyse en prenant pour exemple la recherche de mutations KRAS. Methodes Nous avons constitue un groupe de travail afin de decrire les etapes du processus de prise en charge des analyses. Une etude des dossiers de la PGMC du premier trimestre 2009 a permis de mesurer les delais de la prise en charge. Enfin, un questionnaire sur l’organisation des laboratoires d’ACP d’Aquitaine a permis d’identifier des difficultes organisationnelles. Resultats Le delai median entre la prescription et la validation des resultats de l’analyse etait de 15 jours (etendue : 7–78 jours). Des pratiques expliquant des delais plus longs ont ete mises en evidence dans les laboratoires d’ACP : attente de la prescription avant envoi d’analyse, regroupement d’envoi de cas, recoupe de bloc, envoi par courrier standard, mais egalement a la PGMC : controle d’echantillons douteux par d’autres techniques ou nouvelle extraction pour echantillons non contributifs. Conclusion Les resultats de l’etude ont souligne la necessite de la mise en place d’une procedure regionale et d’une fiche technique afin d’ameliorer le processus.

Resume Objectif L’objectif de cette etude etait d’evaluer l’impact diagnostique, therapeutique et economique des avis en cancerologie donnes par les pathologistes referents en Aquitaine. Materiel et methodes Une etude quantitative retrospective a ete effectuee sur tous les avis et relectures demandes dans deux centres pathologistes referents. Un echantillon des avis regionaux adresses pour tumeurs lymphoides, melaniques et conjonctives a ete selectionne. La proposition diagnostique du pathologiste initial a ete comparee au diagnostic du pathologiste expert. L’impact diagnostique etait determine majeur lorsque l’avis etait envoye pour tumeur maligne a typer ou a identifier, doute benin/malin, diagnostic non precise ou si les diagnostics etaient discordants (malin/benin). L’impact therapeutique etait juge fort si l’avis engendrait une modification radicale du traitement. Le cout des avis pour les deux structures et le cout de la prise en charge therapeutique pour un diagnostic discordant ont ete evalues. Resultats En 2006, les centres de reference ont recu 5077 dossiers, dont 3769 etaient des avis diagnostiques (75 %), 1324 avis provenaient de la region et parmi eux, 751 correspondaient a des tumeurs lymphoides (55 %), conjonctives (30 %) et melaniques (15 %). L’avis donne par l’expert a induit un impact diagnostique majeur dans 75 % des cas, un impact therapeutique fort dans 46 % des cas et un impact pronostique dans 38 % des cas. L’economie de sante realisee sur 53 cas discordants (malins diagnostiques benins) est estimee a environ 500 000 € en termes de prise en charge therapeutique. Conclusion Notre etude montre la necessite des avis diagnostiques non seulement pour la prise en charge du patient, mais egalement pour des raisons economiques.

The prescription of some anti-cancer therapies is now based on the detection of specific genetic alterations that should be determined as early as possible not to put patients at a disadvantage. In 2009, the 'Aquitaine platform of molecular tumour genetics' (PGMC) developed a programme to evaluate and to improve the organisation of molecular cancer analyses, particularly the analysis of the KRAS gene. The objective was to describe the analysis process, the organization of pathology laboratories and the delays between the different phases of the process.We established a working group to describe the different steps between the prescription of molecular biology analyses and the analysis report. A retrospective study based on the first quarter of 2009 allowed us to measure management delays. In addition, a pathology laboratory organisational questionnaire allowed us to identify organisational features hindering rapid delivery.The median delay between the analysis prescription and the results was 15 days (range: 7-78 days). Practices explaining longer delays were highlighted not only in the pathology laboratories (for example, pending of the prescription before sending the analysis, waiting for several cases before sending the material, sample slicing, sending by standard mail), but also within the PGMC (for example, sample testing by another technique or new extraction for non-contributory samples).The results of this study emphasise the necessity of speeding up pre-analytical phases, and of creating an electronic procedure and regional facilities in order to provide results more rapidly to clinicians.

The goal of this work was to evaluate the impact of expert pathological second opinion on the diagnosis and management of patients with cancer, in a French region (Aquitaine) and with an economic point of view.The study was first quantitative, performed retrospectively on all cases of cancer, voluntary sent for a second opinion to an expert pathologist of two centers. Secondly, we restricted the study to lymphoid, melanocytic and soft tissue tumors sent for second opinion. We considered that the expert review had an important diagnostic impact either when the initial pathologist sent the specimen to identify or classify malignant tumor or hesitated between benign and malignant tumor or had no hypothesis, or if there were discordant diagnoses (malignant/benign) between the two pathologists. We considered that the expert review had a high therapeutic impact if the disagreement between initial and expert diagnoses induced a complete modification in therapy. We evaluated the cost of second opinion for the expert centers and the cost of care management.Over the year 2006, the expert centers received 5077 lesions for consultation: 3769 specimens were sent by a pathologist for a second review, 1324 by pathologists of Aquitania and of these, 751 samples were submitted for lymphoid (55%), soft tissues (30%) or melanocytic tumors (15%). There was an important diagnostic impact for 75% of the samples; the impact of the expert review on patient management was considered high for 46% of specimens and the expert pathological diagnosis modified the clinical prognosis for 40% of the specimens. We estimated that for 53 discordant diagnoses (malignant/benign), second opinion allowed an economy of 500,000 euro.Expert second opinion is very important not only for diagnosis and management for patient with cancer but also for economic reasons.

An unusual case of infantile myofibromatosis with foci of calcifications was presented, with atypical age of onset and location. The radiological features of this tumor are not always evocative, and histological examination is necessary for diagnosis.