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Diagnosis and prognosis are comforted by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study

Sophie Vantyghem 1 Pierre Peterlin 1 Sylvain Thépot 2, 3 Audrey Ménard 4 Viviane Dubruille 1 Camille Debord 4 Thierry Guillaume 1 Alice Garnier 1 Amandine Le Bourgeois 1 Soraya Wuilleme 4 Catherine Godon 4 Olivier Theisen 4 Marion Eveillard 5, 4 Jacques Delaunay 6 Hervé Maisonneuve 7 Nadine Morineau 7 Bruno Villemagne 7 Stéphane Vigouroux 7 François Subiger 8 Elsa Lestang 9 Marion Loirat 9 Anne Parcelier 10 Pascal Godmer 10 Mélanie Mercier 10 Adrien Trebouet 11 Damien Paz 2, 12 Ronan Le Calloch 13 Lenaïg Le Clech 13 Céline Bossard 14 Anne Moreau 14 Valérie Ugo 2, 12 Mathilde Hunault 2, 3 Philippe Moreau 15, 16 Steven Le Gouill 5, 16 Patrice Chevallier 17, 16 Marie Béné 17, 4 Yannick Le Bris 5, 4
1 Unité d'Investigation Clinique - Service d'Hématologie Clinique [CHU Nantes]
2 CRCINA - Département INCIT - Equipe 7 - Innate immunity and Immunotherapy
CRCINA - Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers
3 Département d'Hématologie Clinique [CHU d'Angers]
4 Service d'Hématologie Biologique [CHU Nantes]
5 CRCINA - Département NOHMAD - Equipe 10 - Regulation of Bcl2 and p53 networks in Multiple Myeloma and Mantle Cell Lymphoma
CRCINA - Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers
6 Hôpital privé du Confluent [Nantes]
7 Hématologie clinique [CH La Roche-sur-Yon]
8 Laboratoire de Biologie [CHD Vendée, La Roche sur Yon]
9 Centre hospitalier de Saint-Nazaire
10 Centre Hospitalier Bretagne Atlantique [Vannes]
11 UBS Lorient - Université de Bretagne Sud - Lorient
12 Hémato - ANGERS - Laboratoire d'Hématologie Biologique
13 CHI Cornouaille [Quimper] - Centre Hospitalier Intercommunal de Cornouaille [Quimper]
14 Département de Pathologie [CHU Nantes]
15 CRCINA - Département NOHMAD - Equipe 11 - Integrative oncogenomics of multiple myeloma pathogenesis and progression
CRCINA - Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers
16 Unité d'Investigation Clinique - Service d'Hématologie Clinique [Nantes]
17 CRCINA - Département INCIT - Equipe 1 - Immunobiology of Human αβ and γδ T cells and Immunotherapeutic Applications
CRCINA - Centre de recherche de Cancérologie et d'Immunologie / Nantes - Angers
Abstract : Next generation sequencing (NGS) investigates for somatic mutations. The utility of incorporating routine sequencing to guide diagnosis and therapeutic decisions remains challenging. We report an observational multicentric study that aimed to assess the impact of somatic mutations testing by NGS in a real-life setting of chronic myeloid malignancies (CMM). A total of 177 patients were enrolled, partitioned in two overlapping groups. In group A (N=94), the indication was to search for clonal hematopoiesis (CH), in a context of suspected myelodysplastic syndrome or myeloproliferative neoplasia. In group B (N=95), the theranostic impact of somatic mutations was studied. A panel of 34 genes was applied on DNA extracted from blood or bone marrow samples. Within group A, the detection of CH comforted the diagnosis of CMM for 31 patients while absence of CH ruled out the suspected diagnosis in 47 patients. Within group B, NGS identified prognostic somatic mutations in 32 patients, with a therapeutic impact in 18 cases. The use of NGS in daily practice was found here to be useful for an integrated final diagnosis in 83% of the patients through the presence or absence of somatic mutations. Moreover, exploration for somatic mutations had a prognostic impact that led to treatment modification in 19% of the cases. This study outlines the fact that adequate prescription of these new investigations may have a significant positive medico-economic impact by allowing appropriate management of the patients.
Keywords : Myelodysplastic Syndromes somatic mutation by NGS theranostic Chronic Myeloproliferative Disorders diagnosis
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https://www.hal.inserm.fr/inserm-02552097
Contributor : Elizabeth Bernardo <>
Submitted on : Thursday, April 23, 2020 - 12:06:53 PM
Last modification on : Friday, April 24, 2020 - 1:47:59 AM

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UNAM | CRCINA-3I | CRCINA | UNIV-NANTES | UNIV-ANGERS | CNRS

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Sophie Vantyghem, Pierre Peterlin, Sylvain Thépot, Audrey Ménard, Viviane Dubruille, et al.. Diagnosis and prognosis are comforted by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study. Haematologica, Ferrata Storti Foundation, 2020, pp.haematol.2019.242677. ⟨10.3324/haematol.2019.242677⟩. ⟨inserm-02552097⟩

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