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在患有一致性急性淋巴细胞白血病(ALL)且结局不一致的婴儿双胞胎中检测新的易位

Detection of New Translocation in Infant Twins with Concordant ALL and Discordant Outcome.

作者信息

Bahoush Golamreza, Vafapour Maryam, Kariminejad Roxana

机构信息

Ali-Asghar Children Hospital, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran.

Cytogenetic Division, Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.

出版信息

Pediatr Rep. 2020 Dec 24;13(1):9-14. doi: 10.3390/pediatric13010002.

DOI:10.3390/pediatric13010002
PMID:33374488
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7839053/
Abstract

About 2-5% of acute lymphoblastic leukemia (ALL) cases in pediatric patients are infants with an unfavorable prognosis because of high relapse probability. Early detection of the disease is, therefore, very important. Despite the fact that leukemia in twins occurs rarely, more attention has been paid to it in genetic studies. In the present study, through cytogenetic testing, a special case of concordant ALL in monozygotic twins was presented with different outcomes. In spite of an acceptable initial consequence to medical treatment in twins, in another brother (Twin B), early relapse was observed. In the cytogenetic study, both twins expressed while twin A expressed No cases have previously reported this mutation. Whether this translocation has a protective role for leukemia with mixed-lineage leukemia (MLL) gene rearrangement is still unclear. The difference in the translocation identified in the identical twins is also subject to further investigations.

摘要

在儿科患者中,约2%-5%的急性淋巴细胞白血病(ALL)病例为婴儿,因其复发概率高,预后不良。因此,疾病的早期检测非常重要。尽管双胞胎患白血病的情况很少见,但在基因研究中已受到更多关注。在本研究中,通过细胞遗传学检测,呈现了一对同卵双胞胎患一致性ALL但结局不同的特殊病例。尽管双胞胎最初接受治疗的结果尚可,但在另一个兄弟(双胞胎B)中观察到早期复发。在细胞遗传学研究中,双胞胎均表达了 ,而双胞胎A表达了 此前没有病例报道过这种突变。这种易位对伴有混合谱系白血病(MLL)基因重排的白血病是否具有保护作用仍不清楚。同卵双胞胎中鉴定出的易位差异也有待进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d1/7839053/d0e65aa2cf67/pediatrrep-13-00002-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d1/7839053/952052abaedf/pediatrrep-13-00002-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d1/7839053/30e705e22f9e/pediatrrep-13-00002-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d1/7839053/a91e94353d8a/pediatrrep-13-00002-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d1/7839053/d0e65aa2cf67/pediatrrep-13-00002-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d1/7839053/952052abaedf/pediatrrep-13-00002-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d1/7839053/30e705e22f9e/pediatrrep-13-00002-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d1/7839053/a91e94353d8a/pediatrrep-13-00002-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b8d1/7839053/d0e65aa2cf67/pediatrrep-13-00002-g004.jpg

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