Potential of molecular diagnostic methods in the early identification of multiple myeloma: an integrative review/Potencialidade dos metodos moleculares de diagnostico na identificacao precoce de mieloma multiplo: uma revisao integrativa

• Published in: Revista de medicina (São Paulo, Brazil) Vol. 103; no. 3
• Main Authors: Reis de Souza, Anna Caroline, Rodrigues Venancio, Larissa Paola
• Format: Journal Article
• Language: Portuguese
• Published: Universidade de Sao Paulo. Departamento Cientifico da Faculdade de Medicina 01-05-2024
• DOI: 10.11606/issn.1679-9836.v103i3e-216303
• ISSN: 0034-8554

Multiple Myeloma (MM) is a malignant and incurable neoplasm that affects the hematological system. It promotes the production and secretion of monoclonal IgG immunoglobulins or part of them, called M proteins. Its classic signs are represented by the acronym "CRAB" (C: hypercalcemia, R: renal failure, A: anemia, and B: bone lesions). The laboratory finding associated with the disease is a monoclonal peak in the patient's serum and/or urine, most often evidenced by protein electrophoresis or immunofixation of serum proteins. These methods allow the staging of the disease, mainly against other monoclonal gammopathies, and aid in the investigation of the early diagnosis of MM. In this study, the main molecular diagnostic methods for MM were reviewed, showing the potential sensitivity and specificity of detecting abnormalities related to the disease by the methods studied. Furthermore, the study highlights the importance of molecular diagnostic methods in the early identification of MM. Detection of microRNAs by real-time PCR (qRT-PCR) proved to be the most sensitive diagnostic method (97.4%) and Mass Spectrometry, associated with Neural Networks, proved to be the most specific method (95%). In addition, Serum Immunofixation (SIF) and Protein Electrophoresis, the most commonly used methods today, proved to be sensitive and specific; however, they had a precocity of about 6.6 months for SIF. The other methods also showed potential for diagnosing and monitoring the disease, but further studies involving the methods studied are needed to further validate the data identified and make it available to the scientific community.