Keywords : mutations
Correlation of bone marrow morphology and molecular studies in myeloproliferative neoplasms
European Journal of Molecular & Clinical Medicine,
2022, Volume 9, Issue 7, Pages 3819-3829
Background: Myeloproliferative neoplasms (MPNs) are clonal-origin hematopoietic stem cell disorders. Molecular studies in case of BCR-ABL negative MPN (JAK2v617F, CALR and MPL) have revolutionised the diagnostic approach of MPNs. PV is expected to be almost always accompanied by a JAK2 mutation, whereas the specific driver mutation cannot otherwise distinguish one MPN from another; however, in distinguishing ET from pre -PMF or PV, a higher JAK2V617F allele burden favours the diagnosis of the latter rather than the former.
Method: This was a cross – sectional study, for 18 months from from 1st November 2019 to 30th May2021 including review of clinical presentation, peripheral blood, BMA, and BMB along with clinical features in cases with BCR- ABLand JAK2V617F CALR and MPL mutation analysis.
Result: There was 100% level of agreement between Bone Marrow Morphology and molecular studies in case of 16 CML patients diagnosed on bone marrow morphology (BCR-ABL positive). But in case of BCR-ABL negative MPNs out of 16 cases only 13 showed genetic mutation which included JAK2V617F and CALR gene mutation.
Conclusion: Multimodal approach is needed for classifying MPNs .Increased knowledge about molecular alteration has led to drastic shift in classification of MPNs, with molecular features gaining importance and resulting in entities defined in part or even exclusively, by recurrent genetic alterations.