IMPROVING TECHNICAL QUALITY PERFORMANCE OF REMOTE ONCO-HEMATOLOGY LABORATORY FOR BONE MARROW CYTOGENETIC ANALYSIS

Abstract

Introduction: This study aimed to evaluate the technical quality performance of a remote onco-hematology laboratory facility (ROLF) in Brazil, with a focus on its crucial role in the diagnosis and monitoring of onco-hematology diseases. We specifically assessed the effectiveness of bone marrow cytogenetic analysis conducted on samples received from various onco-hematology services throughout the country. Furthermore, we examined the potential impact of implementing a ROLF for the diagnosis of blood and bone marrow cancers, placing particular emphasis on enhancing accessibility, ensuring sample stability, and improving karyotyping performance. Through this investigation, we aim to shed light on the valuable contributions and benefits offered by a remote laboratory setting in the field of onco-hematology diagnostics. Methods: A retrospective study was conducted on 554 bone marrow samples collected between January and May 2023. The samples were sent to the laboratory via our own logistics system, and the processing of the samples commenced within 24 hours of collection. Immunophenotyping classification was performed using a 13-parameter DxFLEX flow cytometer (Beckman Coulter). Cytogenetic analysis using G-banding was performed on cell cultures, which were incubated for 24-72 hours based on the cell type indicated in the immunophenotyping examination. The metaphases were analyzed, and the results were described following the guidelines of the International System for Human Cytogenomic Nomenclature (ISCN - 2020). Results: Cytogenetic analysis was successfully performed in 542 (97.8%) of the cases, while only 12 (2.2%) were classified as unsuccessful cytogenetics (UC). The comparison between karyotyping analysis and immunophenotyping classification revealed the absence of metaphases (UC) in specific neoplasia types: 3 samples (2.7%) out of 88 AML cases, 1 sample out of 39 MDS cases, 1 sample out of 67 myeloma cases, 1 sample out of 15 lymphoproliferative disease cases, and 2 samples (1.8%) out of 69 cases for measurable residual disease investigation. However, successful cytogenetics were obtained in all 39 cases of acute lymphoblastic leukemia and 33 cases of myeloproliferative disease. Four cases (3.52%) out of 204 normal bone marrow samples showed UC results. Discussion: The data indicates that the implementation of a ROLF for cytogenetics and immunophenotyping improves efficiency in achieving accurate diagnoses, with a high percentage of successful cytogenetic results (98%) when compared to previously published results in Brazil and Europe. The low rate of UC and the identification of karyotypic alterations in a significant number of cases highlight the reliability and improvement in cell culture techniques and the identification of clonal lineages, leading to reliable results in understanding and managing each diagnostic approach. Conclusion: Our remote laboratory for immunophenotyping, molecular biology, and cytogenetics has demonstrated excellent technical performance and operational efficiency. These results support the effectiveness of remote support in providing accurate and timely diagnoses for hematological malignancies, contributing to improved patient care and outcomes.