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Journals / Turkish Journal of Hematology / 2016 / Cilt: 33 - Sayı: 3

Miyeloproliferatif Neoplazisi ve Akut Lösemisi Olan Hastalarda Kalretikülin Mutasyon Profili

The Mutation Profile of Calreticulin in Patients with Myeloproliferative Neoplasms and Acute Leukemia

Jingyi WANG
Jianguo HAO
Na HE
Chunyan Jİ
Daoxin MA
Pages
180–186
DOI
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⚡ TL;DR(Too Long; Didn't Read)

However, all of the leukemia patients had negative results for caLr mutations

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: Calreticulin (caLr) plays important roles in cell proliferation, apoptosis, and immune responses. caLr mutations were described recently in Janus kinase 2 gene (JaK2)-negative or MPLnegative primary myelofibrosis (PMF) and essential thrombocythemia (ET) patients. caLr trails JaK2 as the second most mutated gene in myeloproliferative neoplasms (MPNs).
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Key Findings & Data:In the present study, a cohort of 305 Chinese patients with hematopoietic neoplasms was screened for caLr mutations, with the aim of uncovering the frequency of caLr mutations in leukemia and MPNs.Materials and Methods: Polymerase chain reaction and direct sequencing were performed to analyze mutations of CALR in 305 patients with hematopoietic malignancies, including 135 acute myeloid leukemia patients, 57 acute lymphoblastic leukemia patients, and 113 MPN patients.
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Conclusion & Impact:However, all of the leukemia patients had negative results for caLr mutations
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Objective: Calreticulin (caLr) plays important roles in cell proliferation, apoptosis, and immune responses. caLr mutations were described recently in Janus kinase 2 gene (JaK2)-negative or MPLnegative primary myelofibrosis (PMF) and essential thrombocythemia (ET) patients. caLr trails JaK2 as the second most mutated gene in myeloproliferative neoplasms (MPNs). However, little is known about CALR mutation in Chinese patients with leukemia. In the present study, a cohort of 305 Chinese patients with hematopoietic neoplasms was screened for caLr mutations, with the aim of uncovering the frequency of caLr mutations in leukemia and MPNs.Materials and Methods: Polymerase chain reaction and direct sequencing were performed to analyze mutations of CALR in 305 patients with hematopoietic malignancies, including 135 acute myeloid leukemia patients, 57 acute lymphoblastic leukemia patients, and 113 MPN patients. Results: CALR mutations were found in 10.6% (12 of 113) of samples from patients with MPNs. CALR mutations were determined in 11.3% (6 of 53), 21.7% (5 of 23), and 9.1% (1/11) of patients with ET, PMF, and unclassifiable MPN, respectively. Conclusion: We showed that MPN patients carrying CALR mutations presented with higher platelet counts and lower hemoglobin levels compared to those with mutated JaK2. However, all of the leukemia patients had negative results for caLr mutations

Özet

Amaç: Kalretikülin (CALR) hücre çoğalması, apoptoz ve immün yanıtlarda önemli rol oynar. CALR mutasyonları yakın zamanda Janus kinaz 2 (JAK2) veya MPL geni negatif primer miyelofibroz (PMF) ve esansiyel trombositemi (ET) hastalarında tanımlanmıştır. CALR JAK2'yi takiben miyeloproliferatif neoplazilerde (MPN) ikinci sıklıkta görülen mutant gendir. Ancak, Çinli lösemi hastalarında CALR mutasyonları hakkında bilgi sınırlıdır. Bu çalışmada, hematopoetik neoplazisi olan 305 Çinli hasta CALR mutasyonları, bu mutasyonların lösemi ve MPN hastalarındaki sıklığının ortaya çıkarılması için taranmıştır.Gereç ve Yöntemler: Polimeraz zincir reaksiyonu ve direkt dizileme yöntemi 135 akut miyeloid lösemi, 57 akut lenfoblastik lösemi ve 113 MPN olmak üzere toplam 305 hematopoetik malinitesi olan hastada CALR mutasyonlarını analiz etmede kullanılmıştır.Bulgular: CALR mutasyonu MPN hastalarının %10,6'sında (12/113) tespit edilmiştir. Ayrıca bu mutasyonlar ET, PMF ve sınıflandırılamayan MPN hastalarında sırasıyla %11,3 (6/53), %21,7 (5/23) ve %9,1 (1/11) olarak bulunmuştur. Sonuç: CALR mutasyonu taşıyan MPN hastaları JAK2 pozitif olanlara göre tanı anında daha yüksek trombosit sayısı ve daha düşük hemoglobin düzeylerine sahip olduklarını gösterdik. Ancak, lösemi hastalarının tamamında CALR mutasyonları negatif tespit edildi

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Cite This Article

WANG, J., HAO, J., HE, N., Jİ, C., MA, D. (2016). Miyeloproliferatif Neoplazisi ve Akut Lösemisi Olan Hastalarda Kalretikülin Mutasyon Profili. Turkish Journal of Hematology, Cilt: 33 - Sayı: 3, 180–186. https://ajindex.com/articles/413095

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