<i>CBFA2T3</i>::<i>GLIS2</i> 融合基因陽性急性髓系白血病一例_West China Medical Journal

Authors：

歐曉燕 ¹ , 奎莉越 ¹ , 桑寶華 ² , 陳俊伶 ¹ , 蔣鴻超 ³ , 廖瑩燕 ¹ , 夏世梅 ¹ ,  周百靈 ¹

1. ;
2. ;
3. ;

Corresponding?author：

周百靈, Email: 79769522@qq.com

Keywords：

白血病; 兒童; CBFA2T3::GLIS2 融合基因

DOI：

10.7507/1002-0179.202510252

Video：

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Citation： 歐曉燕, 奎莉越, 桑寶華, 陳俊伶, 蔣鴻超, 廖瑩燕, 夏世梅, 周百靈. CBFA2T3::GLIS2 融合基因陽性急性髓系白血病一例. West China Medical Journal, 2026, 41(2): 346-349. doi: 10.7507/1002-0179.202510252 Copy

1.	Du Y, Yang L, Qi S, et al. Clinical analysis of pediatric acute megakaryocytic leukemia with CBFA2T3-GLIS2 fusion gene. J Pediatr Hematol Oncol, 2024, 46(2): 96-103.
2.	de Rooij JD, Masetti R, van den Heuvel-Eibrink MM, et al. Recurrent abnormalities can be used for risk group stratification in pediatric AMKL: a retrospective intergroup study. Blood, 2016, 127(26): 3424-3430.
3.	Gruber TA, Larson Gedman A, Zhang J, et al. An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. Cancer Cell, 2012, 22(5): 683-697.
4.	Masetti R, Pigazzi M, Togni M, et al. CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype. Blood, 2013, 121(17): 3469-3472.
5.	Masetti R, Bertuccio SN, Pession A, et al. CBFA2T3-GLIS2-positive acute myeloid leukaemia. A peculiar paediatric entity. Br J Haematol, 2019, 184(3): 337-347.
6.	Masetti R, Togni M, Astolfi A, et al. DHH-RHEBL1 fusion transcript: a novel recurrent feature in the new landscape of pediatric CBFA2T3-GLIS2-positive acute myeloid leukemia. Oncotarget, 2013, 4(10): 1712-1720.
7.	Smith JL, Ries RE, Hylkema T, et al. Comprehensive transcriptome profiling of cryptic CBFA2T3-GLIS2 fusion-positive AML defines novel therapeutic options: a COG and TARGET pediatric AML study. Clin Cancer Res, 2020, 26(3): 726-737.
8.	Eidenschink BL, Alonzo TA, Menssen AJ, et al. A recurrent immunophenotype at diagnosis independently identifies high-risk pediatric acute myeloid leukemia: a report from Children’s Oncology Group. Leukemia, 2016, 30(10): 2077-2080.
9.	Panda D, Chatterjee G, Sardana R, et al. Utility of CD36 as a novel addition to the immunophenotypic signature of RAM-phenotype acute myeloid leukemia and study of its clinicopathological characteristics. Cytometry B Clin Cytom, 2021, 100(2): 206-217.
10.	Chen WY, Eskandari G, Gaikwad A, et al. Frequent detection of CBFA2T3: : GLIS2 fusion and RAM-phenotype in pediatric non-Down syndrome acute megakaryoblastic leukemia: a possible novel relationship with aberrant cytoplasmic CD3 expression. Leuk Lymphoma, 2023, 64(2): 462-467.
11.	Rossi JG, Rubio P, Alonso CN, et al. Cytoplasmic CD3 expression in infant acute megakaryoblastic leukemia: a new ambiguous lineage subtype?. Leuk Res, 2018, 71: 6-12.
12.	R?rvik SD, Torkildsen S, Bruserud ?, et al. Acute myeloid leukemia with rare recurring translocations-an overview of the entities included in the international consensus classification. Ann Hematol, 2024, 103(4): 1103-1119.
13.	Brown A, Batra S. Rare hematologic malignancies and pre-leukemic entities in children and adolescents young adults. Cancers (Basel), 2024, 16(5): 997.
14.	Li J, Kalev-Zylinska ML. Advances in molecular characterization of pediatric acute megakaryoblastic leukemia not associated with Down syndrome; impact on therapy development. Front Cell Dev Biol, 2023, 11: 1170622.
15.	Quessada J, Cuccuini W, Saultier P, et al. Cytogenetics of pediatric acute myeloid leukemia: a review of the current knowledge. Genes (Basel), 2021, 12(6): 924.
16.	Wu K, Liu H, Hu W, et al. Clinically associated genomic landscape of pediatric non-Down syndrome acute megakaryoblastic leukemia in Chinese patients. Leukemia, 2025, 39(10): 533-2537.
17.	鄭方英, 王春蓮, 黃浩元. 維奈克拉聯合阿扎胞苷治療急性髓系白血病的臨床效果分析. 中國醫藥科學, 2025, 15(2): 109-113.
18.	Masetti R, Bertuccio SN, Astolfi A, et al. Hh/Gli antagonist in acute myeloid leukemia with CBFA2T3-GLIS2 fusion gene. J Hematol Oncol, 2017, 10(1): 26.
19.	Gress V, Roussy M, Boulianne L, et al. CBFA2T3: : GLIS2 pediatric acute megakaryoblastic leukemia is sensitive to BCL-XL inhibition by navitoclax and DT2216. Blood Adv, 2024, 8(1): 112-129.
20.	Le Q, Hadland B, Smith JL, et al. CBFA2T3-GLIS2 model of pediatric acute megakaryoblastic leukemia identifies FOLR1 as a CAR T cell target. J Clin Invest, 2024, 134(16): e184305.
21.	de Rooij JD, Branstetter C, Ma J, et al. Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes. Nat Genet, 2017, 49(3): 451-456.
22.	Hara Y, Shiba N, Ohki K, et al. Prognostic impact of specific molecular profiles in pediatric acute megakaryoblastic leukemia in non-Down syndrome. Genes Chromosomes Cancer, 2017, 56(5): 394-404.
23.	中國醫師協會兒科醫師分會兒童血液腫瘤學組, 中華醫學會兒科學分會血液學組, 中華醫學會兒科學分會腫瘤學組, 等. 兒童急性髓系白血病診療專家共識(2024). 中華兒科雜志, 2024, 62(10): 909-919.
24.	中華醫學會血液學分會干細胞應用學組, 中華醫學會兒科學分會. 異基因造血干細胞移植治療兒童急性髓系白血病(非急性早幼粒細胞白血病)中國專家共識(2022 年版). 中華血液學雜志, 2022, 43(10): 801-807.
25.	羅美珠, 唐雪, 付笑迎, 等. RAM 表型相關急性髓系白血病 1 例臨床及分子遺傳學特征分析. 國際檢驗醫學雜志. (2025-12-25)[2026-01-31].

1. Du Y, Yang L, Qi S, et al. Clinical analysis of pediatric acute megakaryocytic leukemia with CBFA2T3-GLIS2 fusion gene. J Pediatr Hematol Oncol, 2024, 46(2): 96-103.
2. de Rooij JD, Masetti R, van den Heuvel-Eibrink MM, et al. Recurrent abnormalities can be used for risk group stratification in pediatric AMKL: a retrospective intergroup study. Blood, 2016, 127(26): 3424-3430.
3. Gruber TA, Larson Gedman A, Zhang J, et al. An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. Cancer Cell, 2012, 22(5): 683-697.
4. Masetti R, Pigazzi M, Togni M, et al. CBFA2T3-GLIS2 fusion transcript is a novel common feature in pediatric, cytogenetically normal AML, not restricted to FAB M7 subtype. Blood, 2013, 121(17): 3469-3472.
5. Masetti R, Bertuccio SN, Pession A, et al. CBFA2T3-GLIS2-positive acute myeloid leukaemia. A peculiar paediatric entity. Br J Haematol, 2019, 184(3): 337-347.
6. Masetti R, Togni M, Astolfi A, et al. DHH-RHEBL1 fusion transcript: a novel recurrent feature in the new landscape of pediatric CBFA2T3-GLIS2-positive acute myeloid leukemia. Oncotarget, 2013, 4(10): 1712-1720.
7. Smith JL, Ries RE, Hylkema T, et al. Comprehensive transcriptome profiling of cryptic CBFA2T3-GLIS2 fusion-positive AML defines novel therapeutic options: a COG and TARGET pediatric AML study. Clin Cancer Res, 2020, 26(3): 726-737.
8. Eidenschink BL, Alonzo TA, Menssen AJ, et al. A recurrent immunophenotype at diagnosis independently identifies high-risk pediatric acute myeloid leukemia: a report from Children’s Oncology Group. Leukemia, 2016, 30(10): 2077-2080.
9. Panda D, Chatterjee G, Sardana R, et al. Utility of CD36 as a novel addition to the immunophenotypic signature of RAM-phenotype acute myeloid leukemia and study of its clinicopathological characteristics. Cytometry B Clin Cytom, 2021, 100(2): 206-217.
10. Chen WY, Eskandari G, Gaikwad A, et al. Frequent detection of CBFA2T3: : GLIS2 fusion and RAM-phenotype in pediatric non-Down syndrome acute megakaryoblastic leukemia: a possible novel relationship with aberrant cytoplasmic CD3 expression. Leuk Lymphoma, 2023, 64(2): 462-467.
11. Rossi JG, Rubio P, Alonso CN, et al. Cytoplasmic CD3 expression in infant acute megakaryoblastic leukemia: a new ambiguous lineage subtype?. Leuk Res, 2018, 71: 6-12.
12. R?rvik SD, Torkildsen S, Bruserud ?, et al. Acute myeloid leukemia with rare recurring translocations-an overview of the entities included in the international consensus classification. Ann Hematol, 2024, 103(4): 1103-1119.
13. Brown A, Batra S. Rare hematologic malignancies and pre-leukemic entities in children and adolescents young adults. Cancers (Basel), 2024, 16(5): 997.
14. Li J, Kalev-Zylinska ML. Advances in molecular characterization of pediatric acute megakaryoblastic leukemia not associated with Down syndrome; impact on therapy development. Front Cell Dev Biol, 2023, 11: 1170622.
15. Quessada J, Cuccuini W, Saultier P, et al. Cytogenetics of pediatric acute myeloid leukemia: a review of the current knowledge. Genes (Basel), 2021, 12(6): 924.
16. Wu K, Liu H, Hu W, et al. Clinically associated genomic landscape of pediatric non-Down syndrome acute megakaryoblastic leukemia in Chinese patients. Leukemia, 2025, 39(10): 533-2537.
17. 鄭方英, 王春蓮, 黃浩元. 維奈克拉聯合阿扎胞苷治療急性髓系白血病的臨床效果分析. 中國醫藥科學, 2025, 15(2): 109-113.
18. Masetti R, Bertuccio SN, Astolfi A, et al. Hh/Gli antagonist in acute myeloid leukemia with CBFA2T3-GLIS2 fusion gene. J Hematol Oncol, 2017, 10(1): 26.
19. Gress V, Roussy M, Boulianne L, et al. CBFA2T3: : GLIS2 pediatric acute megakaryoblastic leukemia is sensitive to BCL-XL inhibition by navitoclax and DT2216. Blood Adv, 2024, 8(1): 112-129.
20. Le Q, Hadland B, Smith JL, et al. CBFA2T3-GLIS2 model of pediatric acute megakaryoblastic leukemia identifies FOLR1 as a CAR T cell target. J Clin Invest, 2024, 134(16): e184305.
21. de Rooij JD, Branstetter C, Ma J, et al. Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes. Nat Genet, 2017, 49(3): 451-456.
22. Hara Y, Shiba N, Ohki K, et al. Prognostic impact of specific molecular profiles in pediatric acute megakaryoblastic leukemia in non-Down syndrome. Genes Chromosomes Cancer, 2017, 56(5): 394-404.
23. 中國醫師協會兒科醫師分會兒童血液腫瘤學組, 中華醫學會兒科學分會血液學組, 中華醫學會兒科學分會腫瘤學組, 等. 兒童急性髓系白血病診療專家共識(2024). 中華兒科雜志, 2024, 62(10): 909-919.
24. 中華醫學會血液學分會干細胞應用學組, 中華醫學會兒科學分會. 異基因造血干細胞移植治療兒童急性髓系白血病(非急性早幼粒細胞白血病)中國專家共識(2022 年版). 中華血液學雜志, 2022, 43(10): 801-807.
25. 羅美珠, 唐雪, 付笑迎, 等. RAM 表型相關急性髓系白血病 1 例臨床及分子遺傳學特征分析. 國際檢驗醫學雜志. (2025-12-25)[2026-01-31].

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CBFA2T3::GLIS2 融合基因陽性急性髓系白血病一例

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