Importance of Histological Pattern Recognition in Diagnosing Myeloproliferative Neoplasms in the Molecular Era: A Cross-sectional Study

• Published in: Journal of Clinical and Diagnostic Research
• Main Authors: Ramya Katta, Aparna Chinnam, Pasam Ramana Kumari
• Format: Article
• Language: English
• Published: JCDR Research and Publications Private Limited 2025-04-01
• Subjects: erythroid; fibrosis; megakaryocyte morphology; myeloid
• Online Access: https://jcdr.net/articles/PDF/20907/75231_CE[Ra1]_F(IS)_QC(SD_OM)_PF1(AG_SS)_PFA(IS)_PB(AG_IS)_PN(IS).pdf
• ISSN: 2249-782X; 0973-709X

Introduction: Even after the inclusion of bone marrow features as major criterion in specific diagnosis of Myeloproliferative Neoplasms (MPNs), it is not given satisfactory importance in laboratory practice due to several reasons. Since bone marrow biopsy and histopathological examination is a simple procedure, proving its diagnostic utility in MPNs can be useful especially in resource-poor settings. Aim: To identify the importance and reproducibility of the histological pattern recognition in diagnosing MPNs within a blinded clinical scenario. Materials and Methods: This was a two-year cross-sectional analytical study done in the Department of Pathology at Guntur Medical College, Guntur, Andhra Pradesh, India from June 2021 to May 2023. Bone marrow biopsies from cases that were diagnosed as MPNs using a multidisciplinary comprehensive approach were included in the study. All the bone marrow biopsies were reviewed and re-evaluated by three experienced pathologists independently. The reviewers were blinded to clinical, laboratory and molecular data, excepting age and gender. Each pathologist gave an independent histological diagnosis based on his/her observations. Comprehensive multidisciplinary diagnosis was considered the gold standard to calculate diagnostic accuracy, sensitivity, specificity and degree of consensus of bone marrow histology. Data was analysed for kappa value to identify degree of agreement in all parameters between the different pathologists using Statistical Package for the Social Sciences (SPSS) software version 24.0. Results: A total of 47 cases of MPNs were included in the present. Highest diagnostic accuracy, specificity and sensitivity of bone marrow histology was obtained in Overt Myelofibrosis (OMF) (100%, 100%, and 100%, respectively), followed by Chronic Myeloid Leukaemia (CML) (80%, 85.7%, and 97%, respectively). Of all the morphological features tested for reproducibility, highest interobserver agreement was found in cellularity (kappa coefficient of 0.83), megakaryocytic hyperplasia (kappa coefficient of 0.88), and osteosclerosis (kappa coefficient of 0.82). Conclusion: There is a moderate level of agreement and reproducibility between different histological parameters and good accuracy, sensitivity and specificity of bone marrow histopathology in identifying various MPNs. This can be very useful in resource-poor settings and in the early stages of disease evolution.