618
Views
0
CrossRef citations to date
0
Altmetric
Research Article

The characteristics of CALR mutations in myeloproliferative neoplasms: a clinical experience from a tertiary care center in Qatar and a literature review

, , , , , , , & show all
Article: 2360246 | Received 19 Oct 2023, Accepted 21 May 2024, Published online: 28 May 2024

References

  • Dameshek W. Some speculations on the myeloproliferative syndromes. Blood. 1951;6:372–375. doi:10.1182/blood.V6.4.372.372
  • Nowell P, Hungerford D. A minute chromosome in human chronic granulocytic leukemia [abstract]. Science. 1960;132:1497.
  • Yassin MA, Taher A, Mathews V, et al. MERGE: a multinational, multicenter observational registry for myeloproliferative neoplasms in Asia, including Middle East, Turkey, and Algeria. Cancer Med. 2020;9(13):4512–4526. doi:10.1002/cam4.3004
  • Al-Dewik N, Ben-Omran T, Zayed H, et al. Clinical exome sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: a pilot study in patients from the state of Qatar. Gene. 2019;689:34–42. doi:10.1016/j.gene.2018.12.009
  • Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006;3:e270, doi:10.1371/journal.pmed.0030270
  • Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of Calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013;369(25):2379–2390. doi:10.1056/NEJMoa1311347.
  • Yassin MA, Nehmeh SA, Nashwan AJ, et al. Assessing bone marrow activity with [18F] FLT PET in patients with essential thrombocythemia and prefibrotic myelofibrosis: a proof of concept. Technol Cancer Res Treat. 2022;21:153303382210863, doi:10.1177/15330338221086396
  • Chi J, Manoloukos M, Pierides C, et al. Calreticulin mutations in myeloproliferative neoplasms and new methodology for their detection and monitoring. Ann Hematol. 2015;94:399–408. doi:10.1007/s00277-014-2232-8
  • Andrikovics H, Krahling T, Balassa K, et al. Distinct clinical characteristics of myeloproliferative neoplasms with calreticulin mutations. Haematologica. 2014;99(7):1184.
  • Cazzola M, Kralovics R. From Janus Kinase 2 to Calreticulin: the clinically relevant genomic landscape of myeloproliferative neoplasms. Blood. 2014;123(24):3714–3719. doi:10.1182/blood-2014-03-530865
  • Tvorogov D, Thompson-Peach CA, Foßelteder J, et al. Targeting human CALR-mutated MPN progenitors with a neoepitope-directed monoclonal antibody. EMBO Rep. 2022;23(4). doi:10.15252/embr.202152904
  • Rumi E, Pietra D, Ferretti V, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical courses and outcomes. Blood. 2014;123(10):1544–1551. doi:10.1182/blood-2013-11-539098
  • Li B, Xu J, Wang J, et al. Calreticulin mutations in Chinese with primary myelofibrosis. Haematologica. 2014;99(11):1697–1700. doi:10.3324/haematol.2014.109249
  • Allahverdi N, Yassin M, Ibrahim M. Environmental factors, lifestyle risk factors, and host characteristics associated with Philadelphia negative myeloproliferative neoplasm: a systematic review. Cancer Control. 2021;28:107327482110468, doi:10.1177/10732748211046802
  • Chen CC, Gau JP, Chou HJ, et al. Frequencies, clinical characteristics, and outcome of somatic CALR mutations in JAK2-unmutated essential thrombocythemia. Ann Hematol 2014;93(12):2029–2036. doi:10.1007/s00277-014-2151-8
  • Al Assaf C, Van Obbergh F, Billiet J, et al. Analysis of phenotype and outcome in essential thrombocythemia with CALR or JAK2 mutations. Haematologica. 2015;100(7):893–897. doi:10.3324/haematol.2014.118299
  • Pietra D, Rumi E, Ferretti VV, et al. Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms. Leukemia. 2016;30(2):431–438. doi:10.1038/leu.2015.277
  • Tefferi A, Wassie EA, Guglielmelli P, et al. Type 1 versus Type 2 calreticulin mutations in essential thrombocythemia: a collaborative study of 1027 patients. Am J Hematol 2014;89(8):E121–E124. doi:10.1002/ajh.23743
  • Taher A, Yassin MA, Hou XZ, et al. Impact of myeloproliferative neoplasms (MPNs) on health-related quality of life (HRQOL) and medical resource utilization: results from the MERGE registry. Blood. 2018;132:4311, doi:10.1182/blood-2018-99-113248
  • Gisslinger H, Thiele J, Gisslinger B, et al. Calreticulin mutation status predicts improved disease outcome in prefibrotic primary myelofibrosis but not in WHO-defined essential thrombocythemia. Blood. 2014;124(21):3167, doi:10.1182/blood.V124.21.3167.3167
  • Kim HY, Han Y, Jang JH, et al. Effects of CALR-mutant type and burden on the phenotype of myeloproliferative neoplasms. Diagnostics (Basel, Switzerland). 2022;12(11):2570, doi:10.3390/diagnostics12112570
  • Kong H, Liu Y, Luo S, et al. Frequency of calreticulin (CALR) mutation and Its clinical prognostic significance in essential thrombocythemia and primary myelofibrosis: a meta-analysis. Internal Medicine (Tokyo, Japan). 2016;55:1977–1984. doi:10.2169/internalmedicine.55.6214
  • Afana M, Abu-Tineh M, Ellahie A, et al. Myocardial infarction as an initial presentation of essential thrombocythemia with calreticulin (CALR) mutation (none type 1, none type 2). Cureus. 2023;15(1):e33612, doi:10.7759/cureus.33612
  • Guglielmelli P, Rotunno G, Bogani C, et al. Ruxolitinib is an effective treatment for CALR-positive patients with myelofibrosis. Br J Haematol 2016;173(6):938–940. doi:10.1111/bjh.13644
  • Verger E, Cassinat B, Chauveau A, et al. Clinical and molecular response to interferon-α therapy in essential thrombocythemia patients with CALR mutations. Blood. 2015;126(24):2585–2591. doi:10.1182/blood-2015-07-659060
  • Iurlo A, Cattaneo D, Orofino N, et al. Anagrelide and mutational status in essential thrombocythemia. BioDrugs. 2016;30(3):219–223. doi:10.1007/s40259-016-0170-9
  • Luo B, Lee AS. The critical roles of endoplasmic reticulum chaperones and unfolded protein response in tumorigenesis and anticancer therapies. Oncogene. 2013;32:805–818. doi:10.1038/onc.2012.130