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

Sophie Vantyghem; Pierre Peterlin; Sylvain Thépot; Audrey Ménard; Viviane Dubruille; Camille Debord; Thierry Guillaume; Alice Garnier; Amandine Le Bourgeois; Soraya Wuilleme; Catherine Godon; Olivier Theisen; Marion Eveillard; Jacques Delaunay; Hervé Maisonneuve; Nadine Morineau; Bruno Villemagne; Stéphane Vigouroux; François Subiger; Elsa Lestang; Marion Loirat; Anne Parcelier; Pascal Godmer; Mélanie Mercier; Adrien Trebouet; Damien Paz; Ronan Le Calloch; Lenaïg Le Clech; Céline Bossard; Anne Moreau; Valérie Ugo; Mathilde Hunault; Philippe Moreau; Steven Le Gouill; Patrice Chevallier; Marie Béné; Yannick Le Bris

doi:10.3324/haematol.2019.242677

Journal articles

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-ÉQUIPE 7 - Innate Immunity and Immunotherapy

CRCINA - Centre de Recherche en Cancérologie et Immunologie Nantes-Angers

3 Département d'Hématologie Clinique [CHU d'Angers]

4 Service d'Hématologie Biologique [CHU Nantes]

5 CRCINA-ÉQUIPE 10 - Regulation of Bcl2 and p53 Networks in Multiple Myeloma and Mantle Cell Lymphoma

CRCINA - Centre de Recherche en Cancérologie et 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 CHBA - Centre hospitalier Bretagne Atlantique (Morbihan)

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-ÉQUIPE 11 - Integrative Oncogenomics of Multiple Myeloma Pathogenesis and Progression

CRCINA - Centre de Recherche en Cancérologie et Immunologie Nantes-Angers

16 Unité d'Investigation Clinique - Service d'Hématologie Clinique [Nantes]

17 CRCINA-ÉQUIPE 1 - Immunobiology of Human αβ and γδ T Cells and Immunotherapeutic Applications

CRCINA - Centre de Recherche en Cancérologie et 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

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Cancer

Complete list of metadatas

https://www.hal.inserm.fr/inserm-02552097
Contributor : Elizabeth Bernardo <>
Submitted on : Thursday, April 23, 2020 - 12:06:53 PM
Last modification on : Tuesday, January 19, 2021 - 11:10:56 AM

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

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

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