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.

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.

Keywords: CALR; Essential Thrombocythemia; Myeloproliferative Neoplasm

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Mattia Brescini, Maria Giovanna Loglisci, Gioia Colafigli, Luisa Bizzoni, Sonia Buffolino, Daniela Diverio, Massimo Breccia, Maurizio Martelli, Stefania Trasarti. A NEW TYPE-2-LIKE CALR MUTATION IN ESSENTIAL THROMBOCYTHEMIA. International Journal of Case Reports, 2021; 5:204. DOI: 10.28933/ijcr-2021-02-1805


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