Moritani Kyoko, Eguchi-Ishimae Minenori, Tezuka-Kagajo Mari, Miyamoto Machiko, Iwamoto Mayumi, Kawakami Sanae, Nakamura Ryota, Nagai Kozo, Tomomatsu Sawa, Imai Tsuyoshi, Ishida Yasushi, Tauchi Hisamichi, Ishii Eiichi, Eguchi Mariko
Department of Pediatrics Ehime University Graduate School of Medicine Toon Japan.
Division of Pediatrics Matsuyama Red Cross Hospital Matsuyama Japan.
EJHaem. 2025 Jul 28;6(4):e70099. doi: 10.1002/jha2.70099. eCollection 2025 Aug.
is rearranged and overexpressed in a subgroup of acute lymphoblastic leukemia (ALL) with B-precursor phenotype, with a favorable outcome. Even though characteristic gene expression signature as well as surface expression of CD2/CD371 could be a hallmark of -rearranged ALL, actual detection of rearrangement is, however, largely dependent on whole transcriptome analysis due to the highly repetitive nature of gene loci and insertion as the main mechanism of fusion gene formation.
Polymerase chain reactions (PCRs) with several combinations of multiplex primers located on and gene loci were used for the detection of , which represents more than 90% of fusion.
fusion was successfully detected in three out of 50 ALL cases analyzed by standard PCR, and these positive cases showed variable insertion of into the locus. In all patients, sequences of unknown origin were observed at the junction of and sequences, indicating the role of the V(D)J recombination mechanism in fusion gene formation. Although is tandemly repeated at its locus, only a single copy of the sequence was detected at the locus in two of the three -rearranged ALL cases. As previously reported, both CD2 and CD371 were positive in all cases with :: fusion, suggesting that the combination of CD2 and CD371 could be a more reliable marker for detecting the presence of this fusion.
Identification of :: fusion in ALL could be possible more easily by a simple multiplex PCR strategy.
在具有B前体表型的急性淋巴细胞白血病（ALL）亚组中发生重排并过表达，预后良好。尽管特征性基因表达特征以及CD2/CD371的表面表达可能是重排ALL的标志，但由于基因座的高度重复性以及插入作为融合基因形成的主要机制，重排的实际检测在很大程度上依赖于全转录组分析。
使用位于基因座和上的多种多重引物组合进行聚合酶链反应（PCR），以检测，其占融合的90%以上。
通过标准PCR在50例ALL病例中的3例中成功检测到融合，这些阳性病例显示插入基因座的情况各不相同。在所有患者中，在和序列的连接处观察到未知来源的序列，表明V（D）J重组机制在融合基因形成中的作用。尽管在其基因座处串联重复，但在三例重排ALL病例中的两例中，在基因座仅检测到单个拷贝的序列。如先前报道，在所有::融合病例中CD2和CD371均为阳性，这表明CD2和CD371的组合可能是检测这种融合存在的更可靠标志物。
通过简单的多重PCR策略可以更轻松地鉴定ALL中的::融合。
