COTTIN, Laurane; RIOU, Jérémie; ORVAIN, Corentin; IANOTTO, Jean Christophe; BOYER, Françoise; RENARD, Maxime; TRUCHAN-GRACZYK, Matgorzata; MURATI, Anne; JOUANNEAU-COURVILLE, Rébecca; ALLANGBA, Olivier; MANSIER, Olivier; BURRONI, Barbara; ROUSSELET, Marie-Christine; QUINTIN-ROUÉ, Isabelle; MARTIN, Antoine; SADOT-LEBOUVIER, Sophie; DELNESTE, Yves; CHRÉTIEN, Jean-Marie; HUNAULT-BERGER, Mathilde; BLANCHET, Odile; LIPPERT, Eric; UGO, Valérie; LUQUE PAZ, Damien

doi:10.1111/bjh.16276

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British Journal of Haematology. 2020, vol. 188, n° 6, p. 935–944

Résumé en anglais

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.< Réduire

Mots clés

CALR

Myeloproliferative neoplasms

Next-generation sequencing

Mots clés en anglais

Clinique