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Atypical Megakaryocyte Morphology: an Important Diagnostic Clue for JAK2 Mutation–Associated Disorders

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Abstract

Chronic myeloproliferative neoplasm (MPN) is a diverse group of bone marrow disorders. These include BCR-ABL fusion gene–related disorders or disorders negative for BCR-ABL gene rearrangement. However, overlapping clinical, morphological, and molecular findings may cause diagnostic difficulties. Bone marrow (BM) examination gives a clue for diagnosis of MPNs. BM in polycythemia vera (PV) shows panmyelosis with prominent erythroid hyperplasia and megakaryocytes (MG) of variable size, whereas BM in ET shows predominantly megakaryocytic hyperplasia and giant dysplastic MGs with stag-horn nuclei. The characteristic phenotype of MG morphology is attributed to the presence of JAK2 mutation and these atypical pleomorphic-looking MGs are absent in BCR-ABL mutation CML. We emphasize that the presence of giant MGs with stag-horn nuclei should raise a suspicion for JAK2 mutation–associated disorder.

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References

  1. ShuchiGhai, Sharada Rai. Megakaryocytic morphology in Janus kinase 2 V617F positive myeloproliferative neoplasm. South Asian J Cancer. 2017; Apr-Jun; 6(2): 75–78; doi: https://doi.org/10.4103/2278-330X.208854.

  2. Vytrva N, Stacher E, Regitnig P, Zinke-Cerwenka W, Hojas S, Hubmann E, et al. Megakaryocytic morphology and clinical parameters in essential thrombocythemia, polycythemia vera, and primary myelofibrosis with and without JAK2 V617F. Arch Pathol Lab Med. 2014;138:1203–9. https://doi.org/10.5858/arpa.2013-0018-OA.

    Article  PubMed  Google Scholar 

  3. Passamonti F, Maffioli M, Caramazza D, Cazzola M. Myeloproliferative neoplasms: from JAK2 mutations discovery to JAK2 inhibitor therapies. Oncotarget. 2011;2:485–90. https://doi.org/10.18632/oncotarget.281.

    Article  PubMed  PubMed Central  Google Scholar 

  4. George, Tracy & Arber, Daniel. Atlas of bone marrow pathology. 2018.https://doi.org/10.1007/978-1-4939-7469-6.

  5. Arunachalam A, Jain M, Kumar A, Kushwaha R, Singh US, Tripathi A. Megakaryocytes in chronic phase of chronic myeloid leukemia: a descriptive case series. Ann Pathol Lab Med. 2016;3:A176-182.

    Google Scholar 

  6. Pich A, Riera L, Francia di Celle P, Beggiato E, Benevolo G, Godio L. JAK2V617F, CALR, and MPL mutations and bone marrow histology in patients with essential thrombocythaemia. Acta Haematol. 2018;140(4):234–239. doi: https://doi.org/10.1159/000493970. Epub 2018 Nov 7. PMID: 30404086

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Mohit Rajpal: concepts, design, definition of intellectual content, manuscript review; Sankalp Sancheti: concepts, design, definition of intellectual content, manuscript review; Puneet Kaur Somal: literature search, clinical studies, manuscript preparation, manuscript review; Aishwarya Sharma: manuscript review, manuscript revision, manuscript editing; Akash Pramod Sali: data acquisition, data analysis, manuscript editing.

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Correspondence to Sankalp Sancheti.

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Rajpal, M., Sancheti, S., Somal, P.K. et al. Atypical Megakaryocyte Morphology: an Important Diagnostic Clue for JAK2 Mutation–Associated Disorders. SN Compr. Clin. Med. 5, 2 (2023). https://doi.org/10.1007/s42399-022-01343-6

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