CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis-Reference-Cited by-同舟云学术

CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis

Published:2014-04-10 Issue:15 Volume:123 Page:2416-2419
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Rumi Elisa¹²,Harutyunyan Ashot S.³,Pietra Daniela¹,Milosevic Jelena D.³,Casetti Ilaria C.²,Bellini Marta²,Them Nicole C. C.³,Cavalloni Chiara¹,Ferretti Virginia V.¹,Milanesi Chiara¹,Berg Tiina³,Sant’Antonio Emanuela²,Boveri Emanuela⁴,Pascutto Cristiana¹,Astori Cesare¹,Kralovics Robert³⁵,Cazzola Mario¹²

Affiliation:

1. Department of Hematology Oncology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy;

2. Department of Molecular Medicine, University of Pavia, Pavia, Italy;

3. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria;

4. Anatomic Pathology Section, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; and

5. Department of Internal Medicine I, Division of Hematology and Blood Coagulation, Medical University of Vienna, Vienna, Austria

Abstract

Key Points Somatic indels of CALR exon 9 are present in about 20% to 25% of sporadic patients with essential thrombocythemia or primary myelofibrosis. These mutations are found also in familial cases of essential thrombocythemia or primary myelofibrosis as somatically acquired events.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/123/15/2416/1375391/2416.pdf

Reference24 articles.

1. WHO classification of Tumours of Haematopoietic and Lymphoid Tissues.;Swerdlow,2008

2. Familial chronic myeloproliferative disorders: clinical phenotype and evidence of disease anticipation.;Rumi;J Clin Oncol,2007

3. Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders.;Bellanné-Chantelot;Blood,2006

4. JAK2 (V617F) as an acquired somatic mutation and a secondary genetic event associated with disease progression in familial myeloproliferative disorders.;Rumi;Cancer,2006

5. The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms.;Olcaydu;Haematologica,2011

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