A distinct molecular mutational profile and its clinical impact in essential thrombocythemia and primary myelofibrosis patients

Autor: Munazza Rashid, Sidra Maqsood, Gul Sufaida, Bushra Kaleem, Saima Munzir, Samina Naz Mukry, Tahir Shamsi, Uzma Zaidi, Munira Borhany, Rifat Zubair Ahmed Khan
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Male
Oncology
Cancer Research
DNA Mutational Analysis
Essential thrombocythemia
0302 clinical medicine
Surgical oncology
Genotype
Medicine
Pakistan
Overall survival
Prospective Studies
Aged
80 and over
education.field_of_study
Middle Aged
lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
Response to treatment
030220 oncology & carcinogenesis
Disease Progression
Female
Receptors
Thrombopoietin
Thrombocythemia
Essential
Research Article
Adult
medicine.medical_specialty
BCR-ABL negative myeloproliferative neoplasm
Population
Leukaemic free survival
lcsh:RC254-282
Young Adult
03 medical and health sciences
Internal medicine
Genetics
Humans
Myelofibrosis
education
Aged
business.industry
Janus Kinase 2
medicine.disease
Survival Analysis
Early Diagnosis
Primary myelofibrosis
Mutation
Observational study
Calreticulin
business
030215 immunology
Zdroj: BMC Cancer, Vol 20, Iss 1, Pp 1-10 (2020)
BMC Cancer
ISSN: 1471-2407
Popis: Background Classical MPNs including ET and PMF have a chronic course and potential for leukaemic transformation. Timely diagnosis is obligatory to ensure appropriate management and positive outcomes. The aim of this study was to determine the mutational profile, clinical characteristics and outcome of ET and PMF patients in Pakistani population. Methods This was a prospective observational study conducted between 2012 and 2017 at NIBD. Patients were diagnosed and risk stratified according to international recommendations. Response to treatment was assessed by IWG criteria. Results Of the total 137 patients analysed, 75 were ET and 62 were PMF. JAK2 positivity was seen in 51 cases (37.2%), CALR in 41 cases (29.9%), while triple-negative in 17 (12.4%) cases. None of the patients in the present study were MPL positive. Overall survival for patients with ET and PMF was 92.5 and 86.0% respectively and leukaemia free survival was 100 and 91.6% respectively, at a median follow-up of 12 months. Leukaemic transformation occurred in 6.5% of MF patients; among them, JAK2 mutation was frequently found. Molecular mutations did not influence the OS in ET whereas in PMF, OS was shortest in the triple-negative PMF group as compared to the JAK2 and CALR positive patient groups. Conclusion This study shows a different spectrum of molecular mutations in ET and PMF patients in Pakistani population as compared to other Asian countries. Similarly, the risk of leukaemic transformation in ET and PMF is relatively lower in our population of patients. The factors responsible for these phenotypic and genotypic differences need to be analysed in large scale studies with longer follow-up of patients.
Databáze: OpenAIRE
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