FAM53B truncation caused by t(10;19)(q26;q13) chromosome translocation in acute lymphoblastic leukemia.
FAM53B truncation caused by t(10;19)(q26;q13) chromosome translocation in acute lymphoblastic leukemia.
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DOI：
10.3892/ol.2017.5705
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发表时间：
2017-04
期刊：
影响因子：
2.9
通讯作者：
Micci F
中科院分区：
文献类型：
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作者：
Panagopoulos I;Gorunova L;Torkildsen S;Tierens A;Heim S;Micci F
对患者骨髓的RNA测序检测到融合转录本，其中FAM53B基因的编码序列(来自10q26)与映射到SLC7A10基因上游的基因组序列(来自19q13)融合在一起。逆转录-聚合酶链式反应和桑格测序证实了该融合转录本的存在。FAM53B融合转录本预计不会产生任何嵌合蛋白。然而，它可能编码一个截短的FAM53B蛋白，由FAM53B的前302个氨基酸和19q13序列的氨基酸组成。在功能上，截短的FAM53B与登录号为N.1的FAM53B序列编码的蛋白质相似。BC031654.1(FAM53B蛋白登录号：AAH31654.1)。此外，截短的蛋白包含FAM53蛋白家族的整个保守结构域。本研究中检测到的t(10；19)(q26；q13)染色体异常是以前报道过的单一ALL病例，也是唯一的核型改变。两名患者在治疗后均进入血液学和细胞遗传学完全缓解状态。
RNA-sequencing of the patient's bone marrow detected fusion transcripts in which the coding sequence of the FAM53B gene (from 10q26) was fused to a genomic sequence (from 19q13) that mapped upstream of the SLC7A10 locus. Reverse transcription-polymerase chain reaction together with Sanger sequencing verified the presence of this fusion transcript. The FAM53B fusion transcript is not expected to produce any chimeric protein. However, it may code for a truncated FAM53B protein consisting of the first 302 amino acids of FAM53B together with amino acids from the 19q13 sequence. Functionally, the truncated FAM53B would be similar to the protein encoded by the FAM53B sequence with accession no. BC031654.1 (FAM53B protein accession no. AAH31654.1). Furthermore, the truncated protein contains the entire conserved domain of the FAM53 protein family. The chromosome aberration t(10;19)(q26;q13) detected in this study was previously reported in a single case of ALL, in which it was also the sole karyotypic change. Both patients entered complete hematological and cytogenetic remission following treatment.