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Sequential mutational evaluation of CALR ‐mutated myeloproliferative neoplasms with thrombocytosis reveals an association between CALR allele burden evolution and disease progression

Laurane Cottin 1 Jeremie Riou 2 Corentin Orvain 3 Jean Christophe Ianotto 4 Françoise Boyer 5 Maxime Renard 6 Matgorzata Truchan‐graczyk Anne Murati 7 Rebecca Jouanneau‐courville 8 Olivier Allangba Olivier Mansier 9, 10 Barbara Burroni 11 Marie-Christine Rousselet 12 Isabelle Quintin‐roué Antoine Martin 13 Sophie Sadot‐lebouvier Yves Delneste 14 Jean‐marie Chrétien Mathilde Hunault‐berger Odile Blanchet 15 Eric Lippert 16 Valérie Ugo 17 Damien Luque Paz 18
Abstract : In myeloproliferative neoplasms (MPN), JAK2V617F allele burden measurement has an impact on prognosis that helps in patient monitoring. Less is known about its usefulness in CALR-mutated cases. Additional mutations found by next-generation sequencing have also shown an impact on prognosis that may drive therapeutic choices, especially in myelofibrosis, but few studies focused on CALR-mutated patients. We performed a molecular evaluation combining next-generation sequencing with a myeloid panel and CALR allele burden measurement at diagnosis and during follow-up in a cohort of 45 patients with CALR-mutated essential thrombocythaemia. The bone marrow histology was also blindly reviewed in order to apply the WHO2016 classification. The most frequently mutated gene was TET2 (11/21 mutations). CALR type 1-like patients appear to have a more complex molecular landscape. We found an association between disease progression and CALR allele burden increase during follow-up, independently of additional mutations and WHO2016-reviewed diagnosis. Patients with disease progression at the time of follow-up showed a significant increase in CALR allele burden (+16·7%, P = 0·005) whereas patients without disease progression had a stable allele burden (+3·7%, P = 0·194). This result argues for clinical interest in CALR allele burden monitoring.
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https://www.hal.inserm.fr/inserm-02467617
Contributeur : Christelle Boullé <>
Soumis le : mercredi 5 février 2020 - 10:28:06
Dernière modification le : mercredi 1 avril 2020 - 01:48:42

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Laurane Cottin, Jeremie Riou, Corentin Orvain, Jean Christophe Ianotto, Françoise Boyer, et al.. Sequential mutational evaluation of CALR ‐mutated myeloproliferative neoplasms with thrombocytosis reveals an association between CALR allele burden evolution and disease progression. British Journal of Haematology, Wiley, 2019, Epub ahead of print. ⟨10.1111/bjh.16276⟩. ⟨inserm-02467617⟩

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