Valera Elvis Terci, Brassesco María Sol, Germeshausen Manuela, Silveira Vanessa da Silva, Queiroz Rosane Gomes de Paula, Roxo Pérsio, Scrideli Carlos Alberto, de Menezes Ullissis Pádua, Ferriani Virgínia, Tone Luiz Gonzaga
Division of Pediatric Oncology, Department of Pediatrics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil.
Leuk Res. 2009 Sep;33(9):e139-42. doi: 10.1016/j.leukres.2009.03.039. Epub 2009 Apr 26.
Acute lymphoblastic leukemia (ALL) presenting with neutropenia alone is very rare. We describe a newborn with an early life-threatening infection, severe neutropenia and bone marrow findings compatible with severe congenital neutropenia (SCN). She was treated with granulocyte colony-stimulating factor (G-CSF) with complete neutrophil recovery. Three months later she developed a pro-B ALL. We identified a rare loss of 5'-MLL present at the diagnosis of SCN and ALL by FISH analysis using two different MLL (11q23) probes. Molecular analyses for SCN causing mutations (ELA-2, HAX-1 and G6PC3) and for somatic mutations of the CSF3R gene were negative. The early presence of 5'-MLL loss in bone marrow samples may favor the diagnosis of de novo ALL. Nevertheless, the genetic background for SCN is heterogeneous and a non-described mutation for SCN followed by a secondary ALL cannot be excluded. Further genetic investigation may be useful to gain insight into this rare condition in children.
仅表现为中性粒细胞减少的急性淋巴细胞白血病（ALL）非常罕见。我们描述了一名新生儿，其早期有危及生命的感染、严重中性粒细胞减少以及与严重先天性中性粒细胞减少症（SCN）相符的骨髓检查结果。她接受了粒细胞集落刺激因子（G-CSF）治疗，中性粒细胞完全恢复。三个月后，她患上了前B细胞ALL。我们通过使用两种不同的MLL（11q23）探针进行荧光原位杂交（FISH）分析，在SCN和ALL诊断时发现了罕见的5'-MLL缺失。对导致SCN的突变（ELA-2、HAX-1和G6PC3）以及CSF3R基因的体细胞突变进行的分子分析均为阴性。骨髓样本中早期出现的5'-MLL缺失可能有助于诊断原发性ALL。然而，SCN的遗传背景是异质性的，不能排除未描述的SCN突变继发ALL的情况。进一步的基因研究可能有助于深入了解儿童中的这种罕见病症。
