ISSN: 1300-7777 E-ISSN: 1308-5263
The Mutation Profile of Calreticulin in Patients with Myeloproliferative Neoplasms and Acute Leukemia [Turk J Hematol]
Turk J Hematol. 2016; 33(3): 180-186 | DOI: 10.4274/tjh.2015.0220  

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

Jingyi Wang1, Jianguo Hao3, Na He2, Chunyan Ji1, Daoxin Ma1
1Qilu Hospital of Shandong University, Department of Hematology, Shandong, China
2Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Department of Hematology, Shandong, China
3General Hospital of Shandong Stell Group Company, Department of Surgery, Shandong, China

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.

Keywords: Calreticulin mutation, Myeloproliferative neoplasms, Leukemia


Miyeloproliferatif Neoplazisi ve Akut Lösemisi Olan Hastalarda Kalretikülin Mutasyon Profili

Jingyi Wang1, Jianguo Hao3, Na He2, Chunyan Ji1, Daoxin Ma1
1Qilu Hospital of Shandong University, Department of Hematology, Shandong, China
2Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Department of Hematology, Shandong, China
3General Hospital of Shandong Stell Group Company, Department of Surgery, Shandong, China

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 Yöntem: 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.

Anahtar Kelimeler: Kalretikülin mutasyonu, Miyeloproliferatif neoplazi, Lösemi


Jingyi Wang, Jianguo Hao, Na He, Chunyan Ji, Daoxin Ma. The Mutation Profile of Calreticulin in Patients with Myeloproliferative Neoplasms and Acute Leukemia. Turk J Hematol. 2016; 33(3): 180-186

Corresponding Author: Daoxin Ma, China


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