Scopus
YÖKSİS Eşleşti
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia
Cancer Genetics · Haziran 2023
YÖKSİS Kayıtları
A rare CALR variant mutation and efficient peginterferon alfa-2a response in a patient with essential thrombocythemia
Cancer Genetics · 2023 SCI-Expanded
PROFESÖR RAFİYE ÇİFTÇİLER →
Makale Bilgileri
DergiCancer Genetics
Yayın TarihiHaziran 2023
Cilt / Sayfa274-275 · 51-53
Scopus ID2-s2.0-85150890669
Özet
Calreticulin (CALR) is a calcium-binding protein chaperone that may be found throughout the extracellular matrix and membranes of cells. It regulates calcium homeostasis and ensures the appropriate folding of newly generated glycoproteins within the endoplasmic reticulum. A somatic mutation in JAK2, CALR, or MPL is responsible for the great majority of essential thrombocythemia (ET) cases. ET has a diagnostic and prognostic value because of the sort of mutation that causes it. ET patients with the JAK2 V617F mutation had more noticeable leukocytosis, higher hemoglobin levels, and lower platelet levels, but also more thrombotic problems and a higher risk of PV transition. CALR mutations, on the other hand, are linked to a younger age group, males, with lower hemoglobin and leukocyte counts, but higher platelet counts, and a higher risk of myelofibrosis transformation. There are two predominant types of CALR mutations in ET patients. Different CALR point mutations have been identified in recent years, but their involvement in the molecular pathogenesis of MPN, including ET, is still unknown. In this case report, we presented a rare CALR mutation in a patient who was diagnosed with ET and followed up.
Yazarlar (2)
1
Rafiye Çiftçiler
ORCID: 0000-0001-5687-8531
2
Özgür Balasar
ORCID: 0000-0002-2945-9355
Anahtar Kelimeler
CALR
Essential thrombocythemia
Mutation
Myeloproliferative neoplasm
Kurumlar
Konya City Hospital
Konya Turkey
Selçuk Tip Fakültesi
Konya Turkey
Metrikler
1
Atıf
2
Yazar
4
Anahtar Kelime