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

Case Reports in Hematology
Qurratulain RizviTahir Sultan Shamsi

Abstract

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.

References

Dec 24, 2010·Science Translational Medicine·Mark P ChaoIrving L Weissman
Dec 12, 2013·The New England Journal of Medicine·Thorsten KlampflRobert Kralovics
Dec 12, 2013·The New England Journal of Medicine·J NangaliaA R Green
Jan 25, 2014·American Journal of Hematology·Paola GuglielmelliAlessandro M Vannucchi
Feb 12, 2014·Nature Reviews. Clinical Oncology·Ayalew Tefferi, Animesh Pardanani
Jul 6, 2014·Blood·Elisa RumiUNKNOWN Associazione Italiana per la Ricerca sul Cancro Gruppo Italiano Malattie Mieloproliferative Investigators
Feb 12, 2015·The New England Journal of Medicine·Xénia CabagnolsWilliam Vainchenker
Jan 1, 2015·Stem Cell Investigation·Wenyi Luo, Zhongxin Yu
Nov 22, 2016·American Journal of Hematology·Ayalew Tefferi

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Methods Mentioned

BETA
PCR
electrophoresis

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