Calreticulin Mutations in Myeloproliferative Neoplasms Patients Diagnosed in UKM Medical Centre
https://doi.org/10.47836/mjmhs.19.2.9
- Author:
Ahmad Zulhimi
1
;
Raja Zahratul Azma
1
;
Ziqrill Izapri
1
;
Norunaluwar Jalil
1
;
Azlin Ithnin
1
;
Rafeah Tumian
2
Author Information
1. Department of Pathology (Hematology), Hospital Canselor Tuanku Mukhriz, Jalan Yaacob Latif, Bandar Tun Razak, 56000, Wilayah Persekutuan, Kuala Lumpur
2. Department of Medicine, Hospital Canselor Tuanku Mukhriz, Jalan Yaacob Latif, Bandar Tun Razak, 56000, Wilayah Persekutuan, Kuala Lumpur
- Publication Type:Journal Article
- Keywords:
Myeloproliferative neoplasms, JAK2, Calreticulin, PCR
- From:Malaysian Journal of Medicine and Health Sciences
2023;19(No.2):48-54
- CountryMalaysia
- Language:English
-
Abstract:
Introduction: Calreticulin (CALR) mutations are one of the molecular markers that has been incorporated for the
diagnosis of myeloproliferative neoplasms (MPN) in the revised 2017 WHO Classification of Haematopoietic and
Lymphoid Tumors. This study was performed to determine the prevalence of CALR mutations in patients with MPN
diagnosed in UKMMC and to compare their demographics plus laboratory features with other MPN patients. Methods: A total of 59 MPN patients who tested negative for JAK2V617Fmutation were selected and 21 MPN patients
positive for JAK2V617F were included as controls. Screening for CALR exon 9 was done by multiplex polymerase
chain reaction (PCR) followed by Sanger sequencing. Results: A total of six JAK2 V617F negative MPN samples were
found to be positive for CALR mutations. Out of these six, three patients with CALR mutations were of type I mutation, two were type II while one was a mutation in the stretch III region. None of the twenty one JAK2 V617F positive
MPN samples were positive for CALR mutation. Clinical phenotypes for those positive for CALR were restricted to
Essential Thrombocythemia (ET), Primary Myelofibrosis (PMF) and one case of atypical Chronic Myeloid Leukaemia
(CML). Conclusion: CALR mutations constituted 10.16% from the MPN patients who were negative for JAK2V617F
mutation with no significant differences in platelet counts, hemoglobin (Hb), hematocrit and white cell counts as
compared to MPN patients with JAK2 V617F mutations. Testing for CALR mutations among those who are negative
for JAK2V617F within Malaysian population maybe worthwhile and require larger scale studies.
- Full text:11.2023my1459.pdf
