<i>CALR</i> mutation burden in essential thrombocythemia and disease outcome-Reference-Cited by-同舟云学术

CALR mutation burden in essential thrombocythemia and disease outcome

Published:2024-03-28 Issue:13 Volume:143 Page:1310-1314
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Guglielmelli Paola¹^ORCID,Szuber Natasha²³⁴^ORCID,Gangat Naseema⁵^ORCID,Capecchi Giulio¹,Maccari Chiara¹,Harnois Michaël³,Karrar Omer⁵,Abdelmagid Maymona⁵,Balliu Manjola¹,Nacca Elena¹,Atanasio Alessandro¹,Sestini Ilaria¹,Désilets Audrey²^ORCID,Loscocco Giuseppe Gaetano¹^ORCID,Rotunno Giada¹,Busque Lambert²⁴^ORCID,Tefferi Ayalew⁵^ORCID,Vannucchi Alessandro Maria¹^ORCID

Affiliation:

1. 1Department of Experimental and Clinical Medicine, Center of Research and Innovation of Myeloproliferative Neoplasms, Division of Hematology, Azienda Ospedaliera Universitaria Careggi, Florence, Italy

2. 2University of Montreal, Montreal, QC, Canada

3. 3Quebec CML-MPN Research Group, Montreal, QC, Canada

4. 4Department of Hematology, Maisonneuve-Rosemont Hospital, Montreal, QC, Canada

5. 5Division of Hematology, Mayo Clinic, Rochester, MN

Abstract

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.

Publisher

American Society of Hematology

Link

https://ashpublications.org/blood/article-pdf/143/13/1310/2218668/blood_bld-2023-023428-main.pdf

Reference20 articles.

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2. Somatic mutations of calreticulin in myeloproliferative neoplasms;Klampfl;N Engl J Med,2013

3. Phenotypic correlations of CALR mutation variant allele frequency in patients with myelofibrosis;Guglielmelli;Blood Cancer J,2023

4. 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;Stengel;Haematologica,2019

5. The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms;Khoury;Leukemia,2022

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1. Editorial: Biological and clinical implications of the mutational landscape in myeloproliferative neoplasms;Frontiers in Oncology;2024-07-16

2. Clinical impact of mutated JAK2 allele burden reduction in polycythemia vera and essential thrombocythemia;American Journal of Hematology;2024-06-06

3. Conventional Cytogenetic Analysis and Array CGH + SNP Identify Essential Thrombocythemia and Prefibrotic Primary Myelofibrosis Patients Who Are at Risk for Disease Progression;International Journal of Molecular Sciences;2024-04-05

4. Chronic myeloproliferative neoplasms with concomitant CALR mutation and BCR::ABL1 translocation: diagnostic and therapeutic implications of a rare hybrid disease;Frontiers in Cell and Developmental Biology;2024-03-26

5. Risk models in myelofibrosis—the past, present, and future;American Journal of Hematology;2024-02-23