International Journal of Case Reports

Vol. 5 (2021): International Journal of Case Reports
Case Reports

A NEW TYPE-2-LIKE CALR MUTATION IN ESSENTIAL THROMBOCYTHEMIA

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  • Mattia Brescini, dr, Maria Giovanna Loglisci, biotechnologist, Gioia Colafigli, dr, Luisa Bizzoni, dr, Sonia Buffolino, biologist, Daniela Diverio, biologist, Massimo Breccia, dr, Maurizio Martelli, full professor, Stefania Trasarti, dr*
Mattia Brescini, dr, Maria Giovanna Loglisci, biotechnologist, Gioia Colafigli, dr, Luisa Bizzoni, dr, Sonia Buffolino, biologist, Daniela Diverio, biologist, Massimo Breccia, dr, Maurizio Martelli, full professor, Stefania Trasarti, dr*
Hematology, Department of Traslational and Precision Medicine, Policlinico Umberto 1, Sapienza University, Rome, Italy.
DOI: https://doi.org/10.28933/ijcr-2021-02-1805

Keywords

  • CALR; Essential Thrombocythemia; Myeloproliferative Neoplasm

How to Cite

Mattia Brescini, dr, Maria Giovanna Loglisci, biotechnologist, Gioia Colafigli, dr, Luisa Bizzoni, dr, Sonia Buffolino, biologist, Daniela Diverio, biologist, Massimo Breccia, dr, Maurizio Martelli, full professor, Stefania Trasarti, dr*. (2021). A NEW TYPE-2-LIKE CALR MUTATION IN ESSENTIAL THROMBOCYTHEMIA. International Journal of Case Reports, 5, 204. https://doi.org/10.28933/ijcr-2021-02-1805
Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Abstract

CALR mutations, together with JAK-2 and MPL ones, are recognized as “driver” mutations in Philadelphia-negative chronic myeloproliferative neoplasms (MPNs). Most frequent CALR mutations are Type-1 deletions (45-55% of cases) and type-2 insertion (32-42% of cases). These mutations are usually associated with younger age, higher platelet counts, lower leukocyte counts, lower hemoglobin levels and a higher incidence of transformation from ET to MF. Recognizing and describing cases with different mutations can be useful to create a database that might help clinicians to include these patients in risk categories and to guide the appropriate therapeutic choices. We report a case of a 77-years old woman who presented a new type-2 like CALR mutation.

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References

  1. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classi-fication of myeloid neoplasms and acute leuke-mia. Blood 2016; 127(20): 2391-2405
  2. Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR; Cancer Genome Project. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005; 365 (9464): 1054-1061
  3. Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gis-slinger B, Pietra D, Chen D, Vladimer GI, Ba-gienski K, Milanesi C, Casetti IC, Sant’Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schönegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M, Kralovics R. Somatic mutations of calreticulin in myeloproliferative neoplasms. New England Journal of Medicine 2013; 369(25): 2379-2390
  4. Rotunno G, Mannarelli C, Guglielmelli P, et al. Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essen-tial thrombocythemia. Blood 2014. 123: 1552–1555.
  5. Pietra D, Rumi E, Ferretti V, Di Buduo CA, Milanesi C, Cavalloni C, et al. Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms. Leukemia 2016; 30: 431-438
  6. Giannopoulos A, Rougkala N, Loupis T, Man-tzourani M, Viniou NA, Variami E, Vass-ilakopoulos TP, Dryllis G, Kotsianidis I, Gougopoulou T, Politou M, Konstantopoulos K, Vassilopoulos G. Detection of CALR Mutations Using High Resolution Melting Curve Analysis (HRM-A); Application on a Large Cohort of Greek ET and MF Patients. Mediterranean Journal of Hematology and Infectious Diseases. 2019 Jan 1;11(1): e2019009. doi: 10.4084/MJHID.2019.009. PMID: 30671215; PMCID: PMC6328041.
  7. Rampal R, Al-Shahrour F, Abdel-Wahab O, Patel JP, Brunel JP, Mermel CH et al. Integrated ge-nomic analysis illustrates the central role of JAK-STAT pathway activation in myeloprolifera-tive neoplasm pathogenesis. Blood 2014; 123: e 123–e133
  8. Rumi E, Pietra D, Ferretti V, Klampfl T, Harutyunyan AS, Milosevic JD, et al. JAK2 or CALR mutation status defines subtypes of es-sential thrombocythemia with substantially dif-ferent clinical course and outcomes. Blood 2014; 123: 1544-1551