Balducci Estelle, Loosveld Marie, Rahal Ilhem, Boudjarane John, Alazard Emilie, Missirian Chantal, Lafage-Pochitaloff Marina, Michel Gérard, Zattara Hélène
APHM, Hôpital La Timone, Département de Génétique Médicale, Marseille, France.
Aix Marseille Univ, INSERM, GMGF, Marseille, France.
Hematol Oncol. 2018 Feb;36(1):344-348. doi: 10.1002/hon.2416. Epub 2017 Apr 25.
Discrimination between lymphoid blast crisis of chronic myeloid leukemia (CML) and de novo BCR-ABL1 positive acute lymphoblastic leukemia (ALL) represents a diagnostic challenge because this distinction has a major incidence on the management of patients. Here, we report an uncommon pediatric case of ALL with cryptic ins(22;9)(q11;q34q34) and p190-type BCR-ABL1 transcript. We performed interphase fluorescence in situ hybridization (FISH) for BCR-ABL1 rearrangement on blood neutrophils, which was positive consistent with the diagnosis of lymphoid blast crisis of CML. This case illustrates the major interest of interphase FISH for BCR-ABL1 rearrangement on blood neutrophils as a decisive method to discriminate a lymphoid blast crisis of CML from a de novo BCR-ABL1 positive ALL.
鉴别慢性髓性白血病（CML）的淋巴细胞母细胞危象与原发性BCR-ABL1阳性急性淋巴细胞白血病（ALL）是一项诊断挑战，因为这种区分对患者的治疗有重大影响。在此，我们报告1例罕见的小儿ALL病例，其存在隐匿性插入（22；9）（q11；q34q34）和p190型BCR-ABL1转录本。我们对血液中性粒细胞进行了BCR-ABL1重排的间期荧光原位杂交（FISH），结果呈阳性，这与CML淋巴细胞母细胞危象的诊断一致。该病例说明了血液中性粒细胞BCR-ABL1重排间期FISH作为区分CML淋巴细胞母细胞危象与原发性BCR-ABL1阳性ALL的决定性方法的重要价值。
