Hamerschlak Nelson
Programa de Hematologia e Unidade de Transplantes de Medula Ossea, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
J Pediatr (Rio J). 2008 Aug;84(4 Suppl):S52-7. doi: 10.2223/JPED.1785.
To present the implications of genetics, particularly of cytogenetic techniques, for the diagnosis and prognosis of leukemia.
A survey of articles selected from MEDLINE, American Society of Hematology educational programs, the CAPES web portal, the National Comprehensive Cancer Network and textbook chapters.
Since the discovery in 1960 by Peter C. Nowel and David Hungerford of the 9:22 translocation (the Philadelphia chromosome), genetics has come to play an important role in hematology, in this case making it possible to diagnose chronic myeloid leukemia and opening doors to research avenues for the whole field of oncology. One point of great interest refers to the implications of these findings for the prognosis of a range of types of leukemia. In acute myeloid leukemia, the karyotype is of fundamental importance to postremission treatment decisions, and molecular factors determine the treatment of individuals with normal karyotypes. In chronic myeloid leukemia, clonal evolution is associated with progression to the blast crisis. Patients on imatinib who cease responding may have mutations on their ABL gene. Finally, in acute lymphoblastic leukemia, factors such as hyperdiploidy and t 12:21 are associated with good prognosis, whereas carriers of t 4:11 and t 9:22 are considered high risk patients.
Genetics has come to stay as far as hematology and, in particular, the management of leukemia and its prognostic factors are concerned. These tests should always be carried out and the appropriate treatment adopted in the light of their results, so that optimal patient outcomes can be achieved.
阐述遗传学，尤其是细胞遗传学技术，对白血病诊断和预后的意义。
对从MEDLINE、美国血液学会教育项目、CAPES网络门户、国家综合癌症网络选取的文章以及教科书章节进行的一项调查。
自1960年彼得·C·诺威尔和大卫·亨格福德发现9:22易位（费城染色体）以来，遗传学在血液学中发挥了重要作用，在此例中使得慢性髓性白血病的诊断成为可能，并为整个肿瘤学领域的研究开辟了道路。一个非常有趣的点是这些发现对一系列白血病预后的影响。在急性髓性白血病中，核型对于缓解后治疗决策至关重要，分子因素决定了核型正常个体的治疗。在慢性髓性白血病中，克隆进化与急变期进展相关。接受伊马替尼治疗但不再有反应的患者其ABL基因可能发生了突变。最后，在急性淋巴细胞白血病中，超二倍体和t(12;21)等因素与良好预后相关，而t(4;11)和t(9;22)携带者被认为是高危患者。
就血液学，尤其是白血病的管理及其预后因素而言，遗传学已成为一个重要方面。应始终进行这些检测，并根据检测结果采取适当的治疗措施，以便实现最佳的患者治疗效果。
