Georgakopoulos Nikolaos, Diamantopoulos Panagiotis, Micci Francesca, Giannakopoulou Nefeli, Zervakis Konstantinos, Dimitrakopoulou Aglaia, Viniou Nora-Athina
Department of Cytogenetics and Molecular Pathology, Locus Medicus S.A, Athens, Greece.
Hematology Unit, First Department of Internal Medicine, Laikon General Hospital, National and Kapodistrian University of Athens, Athens, Greece
In Vivo. 2018 Sep-Oct;32(5):1241-1245. doi: 10.21873/invivo.11371.
This is a case report of a 46-year-old man diagnosed with early pre-B acute lymphoblastic leukemia (ALL), bearing the translocation t(12;17)(p13;q21) as the sole chromosomal abnormality. This is a rare chromosomal abnormality that has been reported in approximately 25 cases worldwide. FISH analysis revealed a rearrangement of ZNF384 (12p13) and TAF15 (17q12) genes, which is usually associated with a pre-B ALL phenotype with co-expression of the myeloid markers CD13 and/or CD33. ZNF384 encodes a zinc finger protein, which acts as a transcription factor, regulating the expression of several matrix metalloproteinases and TAF15 belongs to the FET (FUS, EWS, and TAF15) family, consisting of RNA and DNA-binding proteins. Unlike most of the cases where CD10 expression was absent or weak, in our case CD10 was highly expressed. The prognostic significance of ZNF384/TAF15 fusion is not very clear since several reports support a generally good prognosis, while others support a poor clinical outcome. Our patient was treated with the German multicenter ALL (GMALL) protocol for B-ALL, but experienced a fulminant gram-negative sepsis and eventually died during induction therapy.
这是一例46岁男性的病例报告，该患者被诊断为早期前B细胞急性淋巴细胞白血病（ALL），其唯一的染色体异常为t(12;17)(p13;q21)易位。这是一种罕见的染色体异常，全球范围内大约报道过25例。荧光原位杂交（FISH）分析显示ZNF384（12p13）和TAF15（17q12）基因重排，这通常与伴有髓系标志物CD13和/或CD33共表达的前B细胞ALL表型相关。ZNF384编码一种锌指蛋白，其作为转录因子，调节几种基质金属蛋白酶的表达，而TAF15属于FET（FUS、EWS和TAF15）家族，由RNA和DNA结合蛋白组成。与大多数CD10表达缺失或较弱的病例不同，我们的病例中CD10高度表达。ZNF384/TAF15融合的预后意义尚不完全清楚，因为一些报告支持总体预后良好，而另一些报告则支持临床结局较差。我们的患者接受了德国多中心B-ALL的ALL（GMALL）方案治疗，但发生了暴发性革兰阴性菌败血症，最终在诱导治疗期间死亡。
