HEMATOLOGY MEETS HISTOPATHOLOGY: A COMPARATIVE STUDY OF MYELOPROLIFERATIVE NEOPLASMS AND MYELODYSPLASTIC SYNDROMES
Main Article Content
Keywords
Myeloproliferative Neoplasms, Myelodysplastic Syndromes, Hematological Disorders, Histopathology, Molecular Characteristics, Diagnostic Challenges, Aga Khan University Hospital
Abstract
Introduction: Myeloproliferative neoplasms (MPNs) and myelodysplastic syndromes (MDS) are two different types of haematological diseases with overlapping clinical manifestations. Therefore, the purpose of this study is to determine the clinical, histopathological, and molecular features of MPNs and MDS to assist in the identification of the two conditions and their management.
Objectives: To review and contrast the clinicopathological and molecular profile of MPNs and MDSs in order to delineate specific differences and similarities that would contribute to better characterization and treatment of these disorders.
Materials and Methods: This cross-sectional study was completed at the Department of Hematology and Histopathology, Aga Khan University Hospital, Karachi, Pakistan, from January 2022 to December 2023. In total, 200 patients were randomly selected from the EMR, 120 diagnosed with MPNs and 80 with MDS. Samples were obtained from clinical records, bone marrow aspirates, histologic examinations and molecular analysis. Patients with response areas that were not complete in any of the diagnostic records or that had more than one response in one of those records were excluded.
Results: This study demonstrated that there were clear histopathological differences between MPNs and MDS. MPN patients had increased numbers of megakaryocytes in the bone marrow, whereas MDS patients had alterations in blood cells and bone marrow morphology. Differential mutation profile was identified, and the main ‘MPN-related’ mutations include JAK2 and TET2, whereas the ‘MDS-related’ ones are SF3B1 and ASXL1. In clinically, MPN patients had splenomie and thrombotie event more frequently and MDS patients had more infection and bleed easily.
Conclusion: The findings of this study are useful in understanding diagnostic complexities arising from the shared characteristics of MPNs and MDS. Through focusing on the differences and peculiarities of histopathological and molecular characteristics of such disorders, it only contributes to the existing knowledge of these diseases and highlights the significance of correct approach to the diagnosis and individual approach toward the treatment.
References
2- Fontana, D., Elli, E.M., Pagni, F. and Piazza, R., 2023. Myelodysplastic syndromes/myeloproliferative overlap neoplasms and differential diagnosis in the WHO and ICC 2022 era: a focused review. Cancers, 15(12), p.3175.
3- Nann, D. and Fend, F., 2021. Synoptic diagnostics of myeloproliferative neoplasms: morphology and molecular genetics. Cancers, 13(14), p.3528.
4- Pizzi, M., Croci, G.A., Ruggeri, M., Tabano, S., Dei Tos, A.P., Sabattini, E. and Gianelli, U., 2021. The classification of myeloproliferative neoplasms: rationale, historical background and future perspectives with focus on unclassifiable cases. Cancers, 13(22), p.5666.
5- Mahmud, M., Vasireddy, S., Gowin, K. and Amaraneni, A., 2023. Myeloproliferative Neoplasms: Contemporary Review and Molecular Landscape. International Journal of Molecular Sciences, 24(24), p.17383.
6- Kuendgen, A., Kasprzak, A. and Germing, U., 2021. Hybrid or Mixed Myelodysplastic/Myeloproliferative Disorders–Epidemiological Features and Overview. Frontiers in oncology, 11, p.778741.
7- Gianelli, U., Thiele, J., Orazi, A., Gangat, N., Vannucchi, A.M., Tefferi, A. and Kvasnicka, H.M., 2023. International Consensus Classification of myeloid and lymphoid neoplasms: myeloproliferative neoplasms. Virchows Archiv, 482(1), pp.53-68.
8- Hebeda, K., Boudova, L., Beham-Schmid, C., Orazi, A., Kvasnicka, H.M., Gianelli, U. and Tzankov, A., 2021. Progression, transformation, and unusual manifestations of myelodysplastic syndromes and myelodysplastic-myeloproliferative neoplasms: lessons learned from the XIV European Bone Marrow Working Group Course 2019. Annals of hematology, 100, pp.117-133.
9- Ferea, C.R., Mihai, S.N., Balan, G., Badescu, M.C., Tutunaru, D. and Tatu, A.L., 2023. Sweet syndrome associated with myelodysplastic syndrome—a review of a multidisciplinary approach. Life, 13(3), p.809.
10- Foucar, K., Bagg, A., Bueso-Ramos, C.E., George, T., Hasserjian, R.P., Hsi, E.D., Orazi, A., Tam, W., Wang, S.A., Weinberg, O.K. and Arber, D.A., 2023. Guide to the Diagnosis of Myeloid Neoplasms: A Bone Marrow Pathology Group Approach. American Journal of Clinical Pathology, 160(4), pp.365-393.
11- Fang, H., Wang, S.A., Xie, W., Tang, Z., Hu, S., Krishnamurthy, S., Medeiros, L.J. and Wang, W., 2021. Clinicopathologic Features of Myelodysplastic Syndromes Involving Lymph Nodes. The American Journal of Surgical Pathology, 45(7), pp.930-938.
12- Fattizzo, B., Serpenti, F., Barcellini, W. and Caprioli, C., 2021. Hypoplastic myelodysplastic syndromes: just an overlap syndrome?. Cancers, 13(1), p.132.
13- Mangaonkar, A.A., Lasho, T.L., Ketterling, R.P., Reichard, K.K., Gangat, N., Al-Kali, A., Begna, K.H., Pardanani, A., Al Ali, N.H., Talati, C. and Sallman, D., 2022. Myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T): Mayo-Moffitt collaborative study of 158 patients. Blood cancer journal, 12(2), p.26.
14- Heibl, S., Gisslinger, B., Jäger, E., Barna, A., Gurbisz, M., Stegemann, M., Bettelheim, P., Machherndl-Spandl, S., Pfeilstöcker, M., Nösslinger, T. and Uyanik, G., 2020. Clinical, hematologic, biologic and molecular characteristics of patients with myeloproliferative neoplasms and a Chronic Myelomonocytic Leukemia-Like phenotype. Cancers, 12(7), p.1891.
15- Hasserjian, R.P., Buckstein, R. and Patnaik, M.M., 2021. Navigating myelodysplastic and myelodysplastic/myeloproliferative overlap syndromes. American Society of Clinical Oncology Educational Book, 41, pp.328-350.
Article Sidebar
Article Details
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
All articles published in JPTCP are licensed under Copyright Creative Commons Attribution-NonCommercial 4.0 International License.
Ahmed Latif Chaudhary
Medical Officer, Department of Pathology, Children's Hospital and University of Child Health Sciences Lahore, Punjab, Pakistan
Urwa Sarwar
Associate Professor of Pathology, CMH Kharian Medical College, Pakistan
Sidra Izhar
Senior Lecturer, Pathology Department, Islam Medical College Pasrur Road Sialkot, Pakistan
Jahanzeb Akhtar
House Officer at Central Park Teaching Hospital, Lahore, Pakistan
Munawar Ali Shah
Assistant Professor, Department of Pathology, Northwest School of Medicine Peshawar, Pakistan
Ahmed Bendari
MBBCh, Department of Pathology and Laboratory Medicine, Lenox Hill Hospital, New York, USA