Abstract
Among 281 patients with essential thrombocythemia and calreticulin (CALR) mutation, we found a variant allele frequency of ≥60% to be associated with significantly shortened myelofibrosis-free survival, mostly apparent with CALR type-1 and CALR type-indeterminate mutations.
References
1.
Nangalia
J
, Massie
CE
, Baxter
EJ
, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2
. N Engl J Med
. 2013
;369
(25
):2391
-2405
.2.
Klampfl
T
, Gisslinger
H
, Harutyunyan
AS
, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms
. N Engl J Med
. 2013
;369
(25
):2379
-2390
.3.
Guglielmelli
P
, Maccari
C
, Sordi
B
, et al. Phenotypic correlations of CALR mutation variant allele frequency in patients with myelofibrosis
. Blood Cancer J
. 2023
;13
(1
):21
.4.
Stengel
A
, Jeromin
S
, Haferlach
T
, Meggendorfer
M
, Kern
W
, Haferlach
C
. Detection and characterization of homozygosity of mutated CALR by copy neutral loss of heterozygosity in myeloproliferative neoplasms among cases with high CALR mutation loads or with progressive disease
. Haematologica
. 2019
;104
(5
):e187
-e190
.5.
Khoury
JD
, Solary
E
, Abla
O
, et al. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms
. Leukemia
. 2022
;36
(7
):1703
-1719
.6.
Arber
DA
, Orazi
A
, Hasserjian
RP
, et al. International Consensus Classification of myeloid neoplasms and acute leukemias: integrating morphologic, clinical, and genomic data
. Blood
. 2022
;140
(11
):1200
-1228
.7.
Thiele
J
, Kvasnicka
HM
, Orazi
A
, et al. The International Consensus Classification of myeloid neoplasms and acute leukemias: myeloproliferative neoplasms
. Am J Hematol
. 2023
;98
(3
):544
-545
.8.
Barosi
G
, Mesa
RA
, Thiele
J
, et al. Proposed criteria for the diagnosis of post-polycythemia vera and post-essential thrombocythemia myelofibrosis: a consensus statement from the International Working Group for myelofibrosis research and treatment
. Leukemia
. 2008
;22
(2
):437
-438
.9.
Guglielmelli
P
, Lasho
TL
, Rotunno
G
, et al. MIPSS70: mutation-enhanced international prognostic score system for transplantation-age patients with primary myelofibrosis
. J Clin Oncol
. 2018
;36
(4
):310
-318
.10.
Tefferi
A
, Wassie
EA
, Guglielmelli
P
, et al. Type 1 vs type 2 calreticulin mutations in essential thrombocythemia: a collaborative study of 1027 patients
. Am J Hematol
. 2014
;89
(8
):e121
-124
.11.
Rumi
E
, Pietra
D
, Ferretti
V
, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes
. Blood
. 2014
;123
(10
):1544
-1551
.12.
Rotunno
G
, Mannarelli
C
, Guglielmelli
P
, et al. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia
. Blood
. 2014
;123
(10
):1552
-1555
.13.
Barbui
T
, Vannucchi
AM
, Buxhofer-Ausch
V
, et al. Practice-relevant revision of IPSET-thrombosis based on 1019 patients with WHO-defined essential thrombocythemia
. Blood Cancer J
. 2015
;5
(11
):e369
.14.
Passamonti
F
, Thiele
J
, Girodon
F
, et al. A prognostic model to predict survival in 867 WHO-defined essential thrombocythemia at diagnosis: a study by the IWG-MRT
. Blood
. 2012
;120
(6
):1197
-1201
.15.
Loscocco
GG
, Guglielmelli
P
, Gangat
N
, et al. Clinical and molecular predictors of fibrotic progression in essential thrombocythemia: a multicenter study involving 1607 patients
. Am J Hematol
. 2021
;96
(11
):1472
-1480
.16.
Vannucchi
AM
, Antonioli
E
, Guglielmelli
P
, et al. Clinical profile of homozygous JAK2V617F mutation in patients with polycythemia vera or essential thrombocythemia
. Blood
. 2007
;110
(3
):840
-846
.17.
Passamonti
F
, Rumi
E
, Pietra
D
, et al. A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications
. Leukemia
. 2010
;24
(9
):1574
-1579
.18.
Bertozzi
I
, Biagetti
G
, Vezzaro
T
, et al. Clinical effect of CALR allele burden in patients with essential thrombocythemia
. Ann Hematol
. 2022
;101
(6
):1345
-1346
.19.
Barbui
T
, Thiele
J
, Passamonti
F
, et al. Initial bone marrow reticulin fibrosis in polycythemia vera exerts an impact on clinical outcome
. Blood
. 2012
;119
(10
):2239
-2241
.20.
Reis
E
, Buonpane
R
, Celik
H
, et al. Discovery of INCA033989, a monoclonal antibody that selectively antagonizes mutant calreticulin oncogenic function in myeloproliferative neoplasms (MPNs)
. Blood
. 2022
;140
(suppl 1
):14
-15
.© 2024 American Society of Hematology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
2024
You do not currently have access to this content.
This feature is available to Subscribers Only
Sign In or Create an Account Close Modal