Panagopoulos Ioannis, Micci Francesca, Thorsen Jim, Haugom Lisbeth, Tierens Anne, Ulvmoen Aina, Heim Sverre
Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Cancer Genet. 2012 Dec;205(12):669-72. doi: 10.1016/j.cancergen.2012.10.004. Epub 2012 Nov 20.
A 10-year-old boy was admitted to the hospital because of anemia detected after a two week history of fatigue, dizziness, nausea, headaches, and weight loss. A bone marrow investigation confirmed a diagnosis of acute lymphoblastic leukemia of the B-cell precursor phenotype. Chromosome G-banding analysis yielded the karyotype 46,XY,t(17;19)(q22;p13), and fluorescence in situ hybridization (FISH) analysis showed rearrangement of the genes TCF3 (on 19p13; accession number NM_03200 version 3) and HLF (on 17q22; accession number NM_002126 version 4) with the generation of a TCF3-HLF chimera. Polymerase chain reaction and sequencing analyses demonstrated the presence of two in-frame chimeric TCF3-HLF transcripts. In the first one, which corresponds to a type 2 fusion, exon 15 of TCF3 is fused to exon 4 of HLF. In the second, described here for the first time and named type 3, exon 14 of TCF3 is fused to exon 4 of HLF. Whether the type 3 chimeric transcript has the same DNA binding and transcriptional regulatory effect as type 1 and type 2 TCF3-HLF chimeras remains to be seen.
一名10岁男孩因在出现两周的疲劳、头晕、恶心、头痛和体重减轻后被检测出贫血而入院。骨髓检查确诊为B细胞前体表型的急性淋巴细胞白血病。染色体G显带分析得出核型为46,XY,t(17;19)(q22;p13)，荧光原位杂交（FISH）分析显示基因TCF3（位于19p13；登录号NM_03200版本3）和HLF（位于17q22；登录号NM_002126版本4）发生重排，产生了TCF3-HLF嵌合体。聚合酶链反应和测序分析证实存在两种读码框内的嵌合TCF3-HLF转录本。在第一个转录本中，对应于2型融合，TCF3的外显子15与HLF的外显子4融合。在第二个转录本中，本文首次描述并命名为3型，TCF3的外显子14与HLF的外显子4融合。3型嵌合转录本是否与1型和2型TCF3-HLF嵌合体具有相同的DNA结合和转录调控作用还有待观察。
