ETV6 rearrangements are recurrent in myeloid malignancies and are frequently associated with other genetic events
ETV6 rearrangements are recurrent in myeloid malignancies and are frequently associated with other genetic events
复制标题
DOI：
10.1002/gcc.21918
复制
发表时间：
2012-04-01
影响因子：
3.7
通讯作者：
Haferlach, Torsten
中科院分区：
文献类型：
--
作者：
Haferlach, Claudia;Bacher, Ulrike;Haferlach, Torsten
ETV6 （TEL）重排在儿童急性淋巴细胞白血病中是有利的，但在髓系恶性肿瘤中不太明显。我们通过染色体显带分析和间期荧光原位杂交对9550例髓系疾病患者的ETV6重排进行了研究。9550例（0.5%）患者中有51例（年龄范围19.285.3岁）发现了ETV6重排。急性髓性白血病（AML）： 3798例中有40例，占1.1%；骨髓增生异常综合征（MDS）： 3,375例中的6例，占0.2%；骨髓增生性肿瘤（mpn）： 5 / 1,720, 0.3%；MDS/MPN: 0 / 210；慢性髓细胞白血病：447例中0例。共鉴定出33个不同的ETV6伴侣带，其中大多数是复发性的：3q26 （n = 10）、5q33 （n = 4）、17q11 （n = 3）、22q12 （n = 3）、5q31 （n = 2）和2q31 （n = 2）。在51例（57%）ETV6重排病例中，有29例发现了额外的染色体异常。在AML中，ETV6重排通常与NPM1（9/ 39,23%）和RUNX1突变（6/ 31,19%）相关。FAB M0亚型在ETV6重排的新生AML中比其他AML更常见（P < 0.001）；CD7和CD34在ETV6重排AML中的表达高于其他亚组。将29例ETV6重排新生AML与818例其他细胞遗传学亚组AML的生存率进行比较。根据医学研究委员会标准，ETV6重排病例的中位总生存期和无事件生存期与中危队列相似（26.3个月对62.2个月，14.0个月对15.4个月）。我们的研究证实，AML、MDS和mpn中ETV6重排的多样性通常与其他遗传事件有关。ETV6重排新生AML的预后似乎是中间的，有待独立证实。(c) 2011 Wiley期刊公司
ETV6 (TEL) rearrangements are favorable in pediatric acute lymphoblastic leukemia but are less well characterized in myeloid malignancies. We investigated 9,550 patients with myeloid disorders for ETV6 rearrangements by chromosome banding analysis and interphase fluorescence in situ hybridization. ETV6 rearrangements were identified in 51 of 9,550 (0.5%) patients (range, 19.285.3 years). Frequencies were in detail: acute myeloid leukemia (AML): 40 of 3,798, 1.1%; myelodysplastic syndromes (MDS): 6 of 3,375, 0.2%; myeloproliferative neoplasms (MPNs): 5 of 1,720, 0.3%; MDS/MPN: 0 of 210; and chronic myelomonocytic leukemia: 0 of 447. Thirty-three different partner bands of ETV6 were identified, and most were recurrent: 3q26 (n = 10), 5q33 (n = 4), 17q11 (n = 3), 22q12 (n = 3), 5q31 (n = 2), and 2q31 (n = 2). Additional chromosomal abnormalities were identified in 29 of 51 (57%) ETV6 rearranged cases. In AML, ETV6 rearrangements were frequently associated with NPM1 (9/39, 23%) and RUNX1 mutations (6/31, 19%). The FAB M0 subtype was more frequent in ETV6 rearranged de novo AML than other AML (P < 0.001); expression of CD7 and CD34 by immunophenotyping was higher in ETV6 rearranged AML compared with other subgroups. Survival of 29 ETV6 rearranged de novo AML was compared with 818 AML from other cytogenetic subgroups. Median overall and event-free survival of ETV6 rearranged cases was similar to the intermediate-risk cohort (26.3 vs. 62.2 months and 14.0 vs. 15.4 months) defined according to Medical Research Council criteria. Our study confirms the variety of ETV6 rearrangements in AML, MDS, and MPNs often in association with other genetic events. Prognosis of ETV6 rearranged de novo AML seems to be intermediate, which should be independently confirmed. (c) 2011 Wiley Periodicals, Inc.