Challenges and Promises of Genetic Stratification of Risk in Multiple Myeloma

Excerpt

Multiple myeloma resembles solid tumours at several levels: it develops and progresses through a well-delineated sequence of pre-malignant and asymptomatic stages, it represents a genetically highly complex and heterogeneous disease, and the laboratory diagnosis of its genetic abnormalities stringently mandates specific testing of the malignant cells, and not the other non-neoplastic marrow components [1]. Also, in contrast to acute leukemias, a focussed testing approach using a single technique i.e. fluorescent in situ hybridization (FISH)-based cytogenetic studies, is highly informative in myeloma. However, FISH is best performed on flow cytometrically sorted plasma cells, or in conjunction with cytoplasmic immunoglobulin staining to ensure specificity [2]. Conventional metaphase cytogenetics in contrast is easier, but has a diminishing role in this disease since it primarily indicates plasma cell proliferation and is insensitive to several of the genetic lesions [3]. Newer molecular level techniques holding out the promise of greater prognostic information also loom on the horizon. …