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

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

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.

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

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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