当前位置： SCI文献检索 > BRITISH JOURNAL OF HAEMATOLOGY期刊下所有文献 > Sequential mutational evaluation of CALR -mutated myeloproliferative neoplasms with thrombocytosis reveals an association between CALR allele burden evolution and disease progression.

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

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.

journal_name

Br J Haematol

journal_title

British journal of haematology

authors

Cottin L,Riou J,Orvain C,Ianotto JC,Boyer F,Renard M,Truchan-Graczyk M,Murati A,Jouanneau-Courville R,Allangba O,Mansier O,Burroni B,Rousselet MC,Quintin-Roué I,Martin A,Sadot-Lebouvier S,Delneste Y,Chrétien JM,Hunaul

doi

10.1111/bjh.16276

subject

Has Abstract

pub_date

2020-03-01 00:00:00

pages

935-944

issue

6

eissn

0007-1048

issn

1365-2141

journal_volume

188

pub_type

杂志文章

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