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Master Thesis

Mise en place de la quantification de la mutation NPM1 de type a au CHU de La Réunion. Évaluation du kit Ipsogen® NPM1 mutA mutaQuant.

Abstract : Introduction : Mutation of the Nucleoplasmin (NPM1) gene represents one of the most frequently observed acquired mutations in acute myeloid leukemia (AML) (30%), particularly in AML with normal karyotype. Among the many types of NPM1 mutants, the type A mutation is the most frequent and accounts for 80% of mutants. The 2016 update of the WHO classification of hematologic malignancies made it a separate entity, classified as AML with recurrent genetic abnormalities, based on its clinical, biological, and prognostic features. Quantification of the NPM1 mutation constitutes a robust molecular target for MRD (Measurable Residual Disease), which is now an indispensable tool to guide the therapeutic attitude and to detect early relapses during the follow-up. The reference technique for the quantification of NPM1 mutations is RT-qPCR on complementary DNA. At CHU Sud Réunion, among the one hundred and thirty-three AMLs diagnosed between January 2015 and July 2020, twenty are NPM1 AMLs (15%) and seventeen are NPM1 type A mutations (85%). The quantification of NPM1 type A AMLs, currently outsourced in metropolitan France to the Cochin Hospital in Paris, represents a significant activity. This justifies its implementation in Reunion Island, and would thus allow to obtain shorter delays for results and to optimize the follow-up of patients. Method : This work evaluates the feasibility of the implementation of the quantification of the NPM1 type A mutation at the University Hospital of La Réunion by using the Ipsogen® NPM1 MutA MutaQuant kit (QIAGEN) on the laboratory's qPCR apparatus (LightCycler® 480 from Roche Diagnostics). Three axes of work were carried out: the analytical validation of the RT-qPCR, the resumption of the molecular follow-up of three patients for comparison with our reference center and the evaluation of the performances of the commercial kit in the working conditions of our molecular biology laboratory. Results : Our manipulations validated the analytical validation criteria of RT-qPCR. The molecular follow-up of the three patients is consistent with the data from our reference center. Accuracy evaluation, through External Quality Assessments (EQA) in which 23 laboratories in France participate, shows discordant results with the peer group. Conclusion : The implementation of NPM1 type A mutation quantification by Ipsogen's NPM1 MutA Mutaquant kit is feasible at CHU Sud Réunion under the current conditions. However, additional studies are necessary to explain the non-conformity of our EEQs and to meet the COFRAC accreditation requirements.
Keywords : NPM1 AML MRD RT-qPCR
Document type :
Master Thesis
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Submitted on : Wednesday, January 26, 2022 - 8:27:42 AM
Last modification on : Friday, January 28, 2022 - 3:27:28 AM
Long-term archiving on: : Wednesday, April 27, 2022 - 6:14:20 PM


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  • HAL Id : dumas-03543406, version 1


Pierre-Louis Prairat. Mise en place de la quantification de la mutation NPM1 de type a au CHU de La Réunion. Évaluation du kit Ipsogen® NPM1 mutA mutaQuant.. Sciences du Vivant [q-bio]. 2021. ⟨dumas-03543406⟩



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