Mutation profile in Indian primary myelofibrosis patients and its clinical implications.
Indian
mutations
myelofibrosis
Journal
South Asian journal of cancer
ISSN: 2278-330X
Titre abrégé: South Asian J Cancer
Pays: India
ID NLM: 101618774
Informations de publication
Date de publication:
Historique:
entrez:
7
9
2019
pubmed:
7
9
2019
medline:
7
9
2019
Statut:
ppublish
Résumé
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by abnormal proliferation of megakaryocytes, bone marrow fibrosis, and extramedullary hematopoiesis. We did mutation profile of 50 patients of PMF and tried to correlate it with initial clinical presentation of these patients. All new and follow up patients who were diagnosed as PMF based on WHO 2016 definition of PMF were included. Mutation profile of these patients including JAK2 V617F, JAK2 exon 12, CALR and MPL mutations was done and all clinical, demographic and laboratory details were recorded. Total 50 patients were enrolled out of which 29 were males and 21 were females. Out of these patients, 32 (64%) were JAK2 positive, 13 (26%) were CALR positive, 1 (2%) were MPL positive and 4 (8%) were triple negative. As compared to JAK2+ve patients and triple negative group, CALR positive patients were younger, had lower total leucocyte count, larger spleen size, lower dynamic international prognostic scoring system (DIPSS) score and higher grade of fibrosis of marrow. This study depicts that incidence of JAK2 and CALR mutations in Indian PMF patients is fairly similar to that in rest of the world. CALR positive patients have better clinical parameters at presentation and have better prognosis as compared to JAK2 positive patients.
Sections du résumé
BACKGROUND
BACKGROUND
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by abnormal proliferation of megakaryocytes, bone marrow fibrosis, and extramedullary hematopoiesis. We did mutation profile of 50 patients of PMF and tried to correlate it with initial clinical presentation of these patients.
MATERIALS AND METHODS
METHODS
All new and follow up patients who were diagnosed as PMF based on WHO 2016 definition of PMF were included. Mutation profile of these patients including JAK2 V617F, JAK2 exon 12, CALR and MPL mutations was done and all clinical, demographic and laboratory details were recorded.
RESULTS
RESULTS
Total 50 patients were enrolled out of which 29 were males and 21 were females. Out of these patients, 32 (64%) were JAK2 positive, 13 (26%) were CALR positive, 1 (2%) were MPL positive and 4 (8%) were triple negative. As compared to JAK2+ve patients and triple negative group, CALR positive patients were younger, had lower total leucocyte count, larger spleen size, lower dynamic international prognostic scoring system (DIPSS) score and higher grade of fibrosis of marrow.
CONCLUSION
CONCLUSIONS
This study depicts that incidence of JAK2 and CALR mutations in Indian PMF patients is fairly similar to that in rest of the world. CALR positive patients have better clinical parameters at presentation and have better prognosis as compared to JAK2 positive patients.
Identifiants
pubmed: 31489296
doi: 10.4103/sajc.sajc_276_18
pii: SAJC-8-186
pmc: PMC6699232
doi:
Types de publication
Journal Article
Langues
eng
Pagination
186-188Déclaration de conflit d'intérêts
There are no conflicts of interest.
Références
N Engl J Med. 2005 Apr 28;352(17):1779-90
pubmed: 15858187
N Engl J Med. 2013 Dec 19;369(25):2379-90
pubmed: 24325356
N Engl J Med. 2013 Dec 19;369(25):2391-2405
pubmed: 24325359
Blood. 2014 Aug 14;124(7):1062-9
pubmed: 24986690
Haematologica. 2014 Nov;99(11):1697-700
pubmed: 24997152
Haematologica. 2014 Oct;99(10):e182-4
pubmed: 25015940
Leukemia. 2015 Jan;29(1):249-52
pubmed: 25212275
Blood. 2014 Oct 9;124(15):2465-6
pubmed: 25301336
Acta Haematol. 2015;133(2):193-8
pubmed: 25323779
Hematology. 2015 Dec;20(10):567-70
pubmed: 25959795
PLoS One. 2015 Sep 16;10(9):e0138250
pubmed: 26375990
Leukemia. 2016 Feb;30(2):431-8
pubmed: 26449662