RESUMO
BACKGROUND: Despite advances in the treatment of multiple myeloma (MM), it remains an incurable malignant disease. Myeloma genetics is intrinsically complex, but it offers an opportunity to categorize the disease and apply a personalized medicine approach. AREAS OF AGREEMENT: Research into the genetics of myeloma is moving at a fast pace and is highlighting areas and patient cohorts likely to benefit from specific treatment. Targeting residual disease is likely to be crucial to improved clinical outcome. AREAS OF CONTROVERSY: Patients in clinical trials are more likely to receive genetic diagnosis than non-trial patients, for whom access is ad hoc and dependent upon regional commissioning arrangements. AREAS TIMELY FOR DEVELOPING RESEARCH: Relating genetics to potential treatment pathways will become crucial for improved myeloma outcomes. Universal access to standardized genetic testing will facilitate modern personalized treatments.
Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Testes Genéticos , Imunomodulação/genética , Mieloma Múltiplo/diagnóstico , Medicina de Precisão/métodos , Transplante de Células-Tronco/métodos , Testes Genéticos/métodos , Testes Genéticos/tendências , Humanos , Mieloma Múltiplo/genética , Mieloma Múltiplo/terapia , Medicina de Precisão/tendências , PrognósticoRESUMO
Involvement of the MLL gene located at chromosome region 11q23 is a frequent occurrence in both acute myelocytic leukemia and acute lymphoblastic leukemia. More than 30 loci have now been associated with MLL, usually by reciprocal translocation. Deletions, insertions, and more complex rearrangements of MLL are rarely seen. We present three cases of AML M5 showing no cytogenetic evidence of 11q23 rearrangement, in which a commercial MLL dual-color fluorescence in situ hybridization probe revealed a nonstandard abnormal signal pattern, suggesting cryptic insertion of the MLL gene into its partner gene site.
