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在无临床明显白血病的情况下,易位t(11;19)(q23;p13.1)重现。

Reemergence of translocation t(11;19)(q23;p13.1) in the absence of clinically overt leukemia.

作者信息

Uemura Suguru, Tamura Akihiro, Saito Atsuro, Hasegawa Daiichiro, Nino Nanako, Yokoi Takehito, Tahara Teppei, Kozaki Aiko, Kishimoto Kenji, Ishida Toshiaki, Kawasaki Keiichiro, Mori Takeshi, Nishimura Noriyuki, Ishimae Minenori, Eguchi Mariko, Kosaka Yoshiyuki

机构信息

Department of Hematology and Oncology, Children's Cancer Center, Kobe Children's Hospital, Minatojima-Minamimachi 1-6-7, Chuo-ku, Kobe, 650-0047, Japan.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, 650-0017, Japan.

出版信息

Int J Hematol. 2017 Dec;106(6):847-851. doi: 10.1007/s12185-017-2289-y. Epub 2017 Jul 1.

DOI:10.1007/s12185-017-2289-y
PMID:28669059
Abstract

We report the case of a 10-year-old female with acute myeloid leukemia (AML) FAB M0 carrying a novel t(11;19)(q23;p13.1) MLL-ELL variant, in which intron 8 of MLL is fused to exon 6 of ELL. Complete remission, judged by morphology and cytogenetic analysis, was achieved after the conventional chemotherapy. Eight months after completion of therapy, the level of WT-1 in peripheral blood and the number of cells with the MLL-ELL fusion transcript resurged. However, the patient remained overtly healthy and the morphology in the bone-marrow smear was innocuous, with no sign of relapse or secondary leukemia. Without any evidence of relapse, the patient has been closely observed without any therapeutic intervention. For approximately 2 years after the completion of therapy, despite clonal proliferation of pre-leukemic cells with an MLL-ELL fusion gene, she has maintained complete remission. In this case, the rare variant form of MLL-ELL fusion that has been identified may be related to diminished leukemogenic capacity, resulting in the persistence of pre-leukemic status; an additional genetic abnormality may thus be necessary for full transformation of pre-leukemic cells.

摘要

我们报告了一例10岁患有急性髓系白血病(AML)FAB M0的女性病例,其携带一种新的t(11;19)(q23;p13.1) MLL-ELL变异体,其中MLL的第8内含子与ELL的第6外显子融合。经传统化疗后,通过形态学和细胞遗传学分析判断达到完全缓解。治疗结束8个月后,外周血中WT-1水平以及携带MLL-ELL融合转录本的细胞数量再次出现。然而,患者仍明显健康,骨髓涂片形态正常,无复发或继发性白血病迹象。在没有任何复发证据的情况下,对患者进行密切观察,未进行任何治疗干预。治疗结束后约2年,尽管携带MLL-ELL融合基因的白血病前期细胞发生克隆性增殖,但她仍维持完全缓解状态。在该病例中,已鉴定出的罕见MLL-ELL融合变异形式可能与白血病发生能力减弱有关,导致白血病前期状态持续存在;因此,白血病前期细胞完全转化可能还需要额外的基因异常。

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