Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature

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...

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Autores principales: Rizvi, Qurratulain, Zaidi, Uzma, Shahid, Saba, Ahmed, Shariq, Shamsi, Tahir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360597/
https://www.ncbi.nlm.nih.gov/pubmed/30805227
http://dx.doi.org/10.1155/2019/1430170
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author Rizvi, Qurratulain
Zaidi, Uzma
Shahid, Saba
Ahmed, Shariq
Shamsi, Tahir
author_facet Rizvi, Qurratulain
Zaidi, Uzma
Shahid, Saba
Ahmed, Shariq
Shamsi, Tahir
author_sort Rizvi, Qurratulain
collection PubMed
description 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.
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spelling pubmed-63605972019-02-25 Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature Rizvi, Qurratulain Zaidi, Uzma Shahid, Saba Ahmed, Shariq Shamsi, Tahir Case Rep Hematol Case Report 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. Hindawi 2019-01-20 /pmc/articles/PMC6360597/ /pubmed/30805227 http://dx.doi.org/10.1155/2019/1430170 Text en Copyright © 2019 Qurratulain Rizvi et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
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
title Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature
title_full Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature
title_fullStr Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature
title_full_unstemmed Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature
title_short Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature
title_sort homozygous calr mutation in primary myelofibrosis and its effect on disease phenotype: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360597/
https://www.ncbi.nlm.nih.gov/pubmed/30805227
http://dx.doi.org/10.1155/2019/1430170
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