扩展诊断标准：伴有t(v;11q23)重排的多器官T细胞/髓系混合表型急性白血病经异基因干细胞移植成功治疗。
Expanding diagnostic criteria: Multiorgan T-Cell/myeloid mixed phenotype acute leukemia with t(v;11q23) -rearrangement successfully treated by allogeneic stem cell transplant.
作者信息
Syed Suhayb, Song Amy, Hussaini Mohammad
机构信息
University of South Florida, Tampa, FL, United States.
Rutgers New Jersey Medical School, Newark, NJ, United States.
出版信息
Leuk Res Rep. 2022 Mar 24;17:100306. doi: 10.1016/j.lrr.2022.100306. eCollection 2022.
Abstract
Mixed phenotype acute leukemia (MPAL) consists of a leukemia of two different lineages (myeloid, T, and/or B) co-occurring in the same tissue. KMT2A-rearrangement is rare and usually seen in B/myeloid MPAL. We report a unique case of T/myeloid MPAL with a t(v;11q23) KMT2A-rearrangement, with acute myeloid leukemia (AML) in the bone marrow but concurrent T-cell acute lymphoblastic leukemia (T-ALL) in lymph node and skin. Genomic interrogation suggests an undifferentiated stem cells with KMT2A rearrangement as the founder mutation that acquired additional lineage-specific mutations resulting in AML in the marrow and T-ALL in other sites.
摘要
混合表型急性白血病（MPAL）由同一组织中同时出现的两种不同谱系（髓系、T 系和/或 B 系）的白血病组成。KMT2A 重排较为罕见，通常见于 B/髓系 MPAL。我们报告了一例独特的 T/髓系 MPAL 病例，伴有 t(v;11q23) KMT2A 重排，骨髓中为急性髓系白血病（AML），但淋巴结和皮肤中同时存在 T 细胞急性淋巴细胞白血病（T-ALL）。基因组分析提示，具有 KMT2A 重排的未分化干细胞作为起始突变，随后获得了其他谱系特异性突变，导致骨髓中出现 AML，其他部位出现 T-ALL。
相似文献
1
Expanding diagnostic criteria: Multiorgan T-Cell/myeloid mixed phenotype acute leukemia with t(v;11q23) -rearrangement successfully treated by allogeneic stem cell transplant.
Leuk Res Rep. 2022 Mar 24;17:100306. doi: 10.1016/j.lrr.2022.100306. eCollection 2022.
2
Genomic Landscape of Mixed-Phenotype Acute Leukemia.
Int J Mol Sci. 2022 Sep 24;23(19):11259. doi: 10.3390/ijms231911259.
3
Integrative genomic and transcriptomic profiling reveals distinct molecular subsets in adult mixed phenotype acute leukemia.
Am J Hematol. 2023 Jan;98(1):66-78. doi: 10.1002/ajh.26758. Epub 2022 Oct 31.
4
Diagnostic challenge in mixed phenotype acute leukemia with T/megakaryocyte or T/myeloid lineages accompanied by t(3;3).
Diagn Pathol. 2022 Oct 5;17(1):74. doi: 10.1186/s13000-022-01257-w.
5
Therapy-induced Deletion in 11q23 Leading to Fusion of With and Development of B Lineage Acute Lymphoplastic Leukemia in a Child Treated for Acute Myeloid Leukemia Caused by t(9;11)(p21;q23)/.
Cancer Genomics Proteomics. 2021 Jan-Feb;18(1):67-81. doi: 10.21873/cgp.20242. Epub 2021 Jan 8.
6
KMT2A-rearranged infantile acute myeloid leukemia masquerading as juvenile myelomonocytic leukemia.
Int J Hematol. 2018 Dec;108(6):665-669. doi: 10.1007/s12185-018-2522-3. Epub 2018 Aug 24.
7
Immunotherapy- (Blinatumomab-) Related Lineage Switch of Rearranged B-Lymphoblastic Leukemia into Acute Myeloid Leukemia/Myeloid Sarcoma and Subsequently into B/Myeloid Mixed Phenotype Acute Leukemia.
Case Rep Hematol. 2019 Dec 7;2019:7394619. doi: 10.1155/2019/7394619. eCollection 2019.
8
Prognosis of children with mixed phenotype acute leukemia treated on the basis of consistent immunophenotypic criteria.
Haematologica. 2010 Jun;95(6):928-35. doi: 10.3324/haematol.2009.014506. Epub 2010 Feb 9.
9
Mutational landscape and clinical outcome of patients with de novo acute myeloid leukemia and rearrangements involving 11q23/.
Proc Natl Acad Sci U S A. 2020 Oct 20;117(42):26340-26346. doi: 10.1073/pnas.2014732117. Epub 2020 Oct 5.
10
Acute leukaemia and myelodysplastic syndromes with chromosomal rearrangement involving 11q23 locus, but not gene.
J Clin Pathol. 2017 Mar;70(3):244-249. doi: 10.1136/jclinpath-2016-203831. Epub 2016 Aug 5.
引用本文的文献
1
Chinese expert consensus on flow cytometric detection of hematological malignant cells in tissue samples.
J Natl Cancer Cent. 2024 Dec 15;5(1):28-37. doi: 10.1016/j.jncc.2024.11.003. eCollection 2025 Feb.
本文引用的文献
1
Early T-Cell Precursor Acute Lymphoblastic Leukemia and T/Myeloid Mixed Phenotype Acute Leukemia Possess Overlapping Characteristics and Both Benefit From CAG-Like Regimens and Allogeneic Hematopoietic Stem Cell Transplantation.
Transplant Cell Ther. 2021 Jun;27(6):481.e1-481.e7. doi: 10.1016/j.jtct.2021.02.032. Epub 2021 Feb 28.
2
Clinical Implications of Minimal Residual Disease Detection in Infants With -Rearranged Acute Lymphoblastic Leukemia Treated on the Interfant-06 Protocol.
J Clin Oncol. 2021 Feb 20;39(6):652-662. doi: 10.1200/JCO.20.02333. Epub 2021 Jan 6.
3
Chronic loss of STAG2 leads to altered chromatin structure contributing to de-regulated transcription in AML.
J Transl Med. 2020 Sep 3;18(1):339. doi: 10.1186/s12967-020-02500-y.
4
Genomic landscape in acute myeloid leukemia and its implications in risk classification and targeted therapies.
J Biomed Sci. 2020 Jul 21;27(1):81. doi: 10.1186/s12929-020-00674-7.
5
T-lymphoid/myeloid mixed phenotype acute leukemia and early T-cell precursor lymphoblastic leukemia similarities with mutation as a good prognostic factor.
Cancer Manag Res. 2019 May 2;11:3933-3943. doi: 10.2147/CMAR.S196574. eCollection 2019.
6
Biphenotypic acute leukemia or acute leukemia of ambiguous lineage in childhood: clinical characteristics and outcome.
Blood Res. 2019 Mar;54(1):63-73. doi: 10.5045/br.2019.54.1.63. Epub 2019 Mar 21.
7
Mixed phenotype acute leukemia contains heterogeneous genetic mutations by next-generation sequencing.
Oncotarget. 2018 Jan 3;9(9):8441-8449. doi: 10.18632/oncotarget.23878. eCollection 2018 Feb 2.
8
Mixed-Phenotype Acute Leukemia: Diagnostic Criteria and Pitfalls.
Arch Pathol Lab Med. 2017 Nov;141(11):1462-1468. doi: 10.5858/arpa.2017-0218-RA.
9
The genomic landscape of pediatric and young adult T-lineage acute lymphoblastic leukemia.
Nat Genet. 2017 Aug;49(8):1211-1218. doi: 10.1038/ng.3909. Epub 2017 Jul 3.
10
Management of adults with T-cell lymphoblastic leukemia.
Blood. 2017 Mar 2;129(9):1134-1142. doi: 10.1182/blood-2016-07-692608. Epub 2017 Jan 23.
Zotero 插件