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Acute Myeloid Leukemia in Children: Emerging Paradigms in Genetics and New Approaches to Therapy.
Conneely SE, Stevens AM. Conneely SE, et al. Curr Oncol Rep. 2021 Jan 13;23(2):16. doi: 10.1007/s11912-020-01009-3. Curr Oncol Rep. 2021. PMID: 33439382 Free PMC article. Review.
PURPOSE OF REVIEW: Acute myeloid leukemia (AML) in children remains a challenging disease to cure with suboptimal outcomes particularly when compared to the more common lymphoid leukemias. ...RECENT FINDINGS: Recent studies have revealed an increasing number of mutations, …
PURPOSE OF REVIEW: Acute myeloid leukemia (AML) in children remains a challenging disease to cure with suboptimal outcomes particular …
CBFA2T3-GLIS2-positive acute myeloid leukaemia. A peculiar paediatric entity.
Masetti R, Bertuccio SN, Pession A, Locatelli F. Masetti R, et al. Br J Haematol. 2019 Feb;184(3):337-347. doi: 10.1111/bjh.15725. Epub 2018 Dec 28. Br J Haematol. 2019. PMID: 30592296 Free PMC article. Review.
In this changing landscape, a significantly relevant discovery has been represented by the identification of the CBFA2T3-GLIS2 fusion gene, which is the result of a cryptic inversion of chromosome 16. ...We here review the peculiarities of CBFA2T3-G …
In this changing landscape, a significantly relevant discovery has been represented by the identification of the CBFA2T3-GLIS2 …
Pathologic, cytogenetic, and molecular features of acute myeloid leukemia with megakaryocytic differentiation: A report from the Children's Oncology Group.
Chisholm KM, Smith J, Heerema-McKenney AE, Choi JK, Ries RE, Hirsch BA, Raimondi SC, Wang YC, Dang A, Alonzo TA, Sung L, Aplenc R, Gamis AS, Meshinchi S, Kahwash SB. Chisholm KM, et al. Pediatr Blood Cancer. 2023 May;70(5):e30251. doi: 10.1002/pbc.30251. Epub 2023 Feb 15. Pediatr Blood Cancer. 2023. PMID: 36789545 Free PMC article.

Very few cases had AML-associated somatic mutations. Cases with CBFA2T3::GLIS2 were enriched in trisomy 3 (p = .015) and the RAM phenotype, with associated high CD56 expression (p < .001). ...While different 5-year EFS and OS were observed in AMkL in each trial,

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Very few cases had AML-associated somatic mutations. Cases with CBFA2T3::GLIS2 were enriched in trisomy 3 (p = .015) and the R …
The biology of pediatric acute megakaryoblastic leukemia.
Gruber TA, Downing JR. Gruber TA, et al. Blood. 2015 Aug 20;126(8):943-9. doi: 10.1182/blood-2015-05-567859. Epub 2015 Jul 17. Blood. 2015. PMID: 26186939 Free PMC article. Review.
In contrast, non-DS-AMKL is characterized by chimeric oncogenes consisting of genes known to play a role in normal hematopoiesis. CBFA2T3-GLIS2 is the most frequent chimeric oncogene identified to date in this subset of patients and confers a poor prognosis....
In contrast, non-DS-AMKL is characterized by chimeric oncogenes consisting of genes known to play a role in normal hematopoiesis. CBFA2T3 …
The changing scenario of non-Down syndrome acute megakaryoblastic leukemia in children.
Masetti R, Guidi V, Ronchini L, Bertuccio NS, Locatelli F, Pession A. Masetti R, et al. Crit Rev Oncol Hematol. 2019 Jun;138:132-138. doi: 10.1016/j.critrevonc.2019.04.011. Epub 2019 Apr 15. Crit Rev Oncol Hematol. 2019. PMID: 31092368 Review.
The sequencing of large cohort of pediatric non-DS-AMKL samples led to the discovery of novel genetic aberrations, including high-frequency fusions, such as CBFA2T3-GLIS2 and NUP98-KDM5 A, as well as less frequent aberrations, such as HOX rearrangements. These new i …
The sequencing of large cohort of pediatric non-DS-AMKL samples led to the discovery of novel genetic aberrations, including high-frequency …
Acute myeloid leukemia with RAM immunophenotype presenting with extensive mesenteric and retroperitoneal lymphadenopathy: A case report and review of the literature.
Wick N, Hitto I, Welder D, Slone T, Koduru P, Fuda F, Rakheja D, Weinberg O. Wick N, et al. Leuk Res Rep. 2021 Dec 14;17:100287. doi: 10.1016/j.lrr.2021.100287. eCollection 2022. Leuk Res Rep. 2021. PMID: 34976721 Free PMC article.
Bone marrow biopsy revealed >90% blasts, positive for CD34, CD117, and CD56 by flow cytometry and immunohistochemistry. Next generation sequencing revealed BCOR loss and CBFA2T3-GLIS2 fusion. Following induction chemotherapy, bone marrow biopsy showed residual di …
Bone marrow biopsy revealed >90% blasts, positive for CD34, CD117, and CD56 by flow cytometry and immunohistochemistry. Next generation s …
[Genetic aberrations and new treatment strategies for pediatric acute myeloid leukemia].
Shiba N. Shiba N. Rinsho Ketsueki. 2018;59(10):2260-2267. doi: 10.11406/rinketsu.59.2260. Rinsho Ketsueki. 2018. PMID: 30305534 Review. Japanese.
To facilitate genome-based treatment, we should revise the risk classification of AML more appropriately, adopting mutations of NPM1, biallelic CEBPA, and KMT2A-PTD and novel gene fusions, including CBFA2T3-GLIS2 and NUP98-JARID1A. Furthermore, new promising molecul …
To facilitate genome-based treatment, we should revise the risk classification of AML more appropriately, adopting mutations of NPM1, bialle …