Borges Maria L R, Capela de Matos Roberto R, Amaral Bethânia D A Silva, Soares-Ventura Eliane M, Leite Edinalva P, Silva Mariluze O D, Cornélio Maria T M Nogueira, Silva Maria L M, Liehr Thomas, Marques-Salles Terezinha D J
*Pediatric Oncohematology Center, Hospital Oswaldo Cruz/Post Graduation Program, Faculty of Medical Sciences †Biologic Sciences Institute, Pernambuco University, Recife/PE ‡Cytogenetics Department, Bone Marrow Unit, National Cancer Institute, Rio de Janeiro/RJ, Brazil §Institute of Human Genetics, Jena University Hospital, Jena, Germany.
J Pediatr Hematol Oncol. 2017 Mar;39(2):e85-e91. doi: 10.1097/MPH.0000000000000720.
Myeloid malignancies can be either primary or secondary, whether or not a specific cause can be determined. Fanconi anemia (FA), a rare constitutional bone marrow failure, usually presents an increased possibility of clonal evolution, due to the increase in chromosomal instability, TP53 activation, and cell death. The evolution of FA may include aplastic anemia by the progressive failure of the bone marrow and myelod neoplasias, such as acute myeloid leukemia and myelodysplastic syndrome. Chromosome abnormalities, particularly of chromosomes, 1, 3, and 7, during the aplastic phase of the disease are predictive of evolution to acute myeloid leukemia/myelodysplastic syndrome. Cytogenetic studies are indispensable to characterize chromosome abnormalities, and thus an important part of the clinical management, and for planning of therapeutic interventions. Here, clinical data and outcomes of 4 FA, 3 of them with myeloid malignances and 1 asymptomatic, and detailed characterization of their chromosome abnormalities using cytogenetics techniques are described.
髓系恶性肿瘤可以是原发性的，也可以是继发性的，无论是否能确定具体病因。范可尼贫血（FA）是一种罕见的先天性骨髓衰竭，由于染色体不稳定性增加、TP53激活和细胞死亡，通常呈现克隆进化的可能性增加。FA的演变可能包括骨髓进行性衰竭导致的再生障碍性贫血以及髓系肿瘤，如急性髓系白血病和骨髓增生异常综合征。在疾病的再生障碍期，染色体异常，特别是1号、3号和7号染色体的异常，可预测向急性髓系白血病/骨髓增生异常综合征的演变。细胞遗传学研究对于表征染色体异常不可或缺，因此是临床管理的重要组成部分，也是治疗干预计划的重要依据。在此，描述了4例FA的临床数据和结果，其中3例患有髓系恶性肿瘤，1例无症状，并使用细胞遗传学技术详细表征了其染色体异常情况。
