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CC BY 4.0 · Indian J Med Paediatr Oncol 2023; 44(06): 578-584
DOI: 10.1055/s-0043-1766138
Review Article

A Review on the Role of Molecular Genetics in the Diagnostic Workup of BCR::ABL1-Negative Myeloproliferative Neoplasms

Madhavi Maddali 
1   Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India
,
Arun Kumar Arunachalam 
1   Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India
,
Alpesh Kumar BipinBhai Kapadia
1   Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India
,
Uday Prakash Kulkarni 
1   Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India
,
Poonkuzhali Balasubramanian 
1   Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India
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Abstract

The diagnostic evaluation of myeloproliferative neoplasms (MPNs) depends on the close correlation between clinical features, morphologic assessment of a trephine bone marrow biopsy, and molecular markers. Typically, MPNs have driver mutations in JAK2, CALR, or MPL, as well as mutations in genes related to epigenetic regulation, RNA splicing, and signaling. Mutations in these genes are a hallmark of diagnostic, prognostic, and therapeutic assessment in patients with MPNs. In line with the World Health Organization classification, all myeloproliferative disorders require molecular characterization to support diagnoses or confirm entities defined by underlying molecular abnormalities. A structured molecular analysis workflow is essential for a rapid and cost-effective diagnosis of MPN. The purpose of this review is to explore the role of molecular diagnostics in the assessment of BCR::ABL1-negative MPNs.

Keywords

molecular diagnostics - MPN - PV - ET - PMF - non-classical MPN

Authors' Contributions

All the authors approve the submitted version of the manuscript. M.M. and A.K.A. wrote the paper. A.B.K., U.P.K., and B.P. contributed to the critical revisions of the manuscript.


Ethical Disclosure

None.


Supplementary Material



Publication History

Article published online:
17 April 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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