Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature
Joint Authors
Rizvi, Qurratulain
Zaidi, Uzma
Shahid, Saba
Ahmed, Shariq
Shamsi, Tahir
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-01-20
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Somatic mutations in CALR gene have been reported in 60%–88% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) who are negative for JAK2 and MPL mutations.
Most of the CALR mutations analyzed to date are heterozygous mutations in exon 9 of the gene.
Homozygosity in CALR gene is rarely reported, and its association with clinical behavior of disease and impact on outcome of patients is not studied so far.
We herein report a case of intermediate-2 risk PMF (according to IPSS) diagnosed with homozygous mutation (c.1139delA p.E380fs∗50) in CALR gene having severe disease manifestations at presentation.
American Psychological Association (APA)
Rizvi, Qurratulain& Zaidi, Uzma& Shahid, Saba& Ahmed, Shariq& Shamsi, Tahir. 2019. Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature. Case Reports in Hematology،Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1136389
Modern Language Association (MLA)
Rizvi, Qurratulain…[et al.]. Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature. Case Reports in Hematology No. 2019 (2019), pp.1-4.
https://search.emarefa.net/detail/BIM-1136389
American Medical Association (AMA)
Rizvi, Qurratulain& Zaidi, Uzma& Shahid, Saba& Ahmed, Shariq& Shamsi, Tahir. Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature. Case Reports in Hematology. 2019. Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1136389
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136389