Suppr超能文献

伴有重排的急性白血病:伪装高手。

Acute leukemia with rearrangement: A master of disguise.

作者信息

Bawek Sawyer J, Wang Eunice S, Green Steven D

机构信息

Department of Internal Medicine, University at Buffalo, Buffalo, NY, United States.

Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States.

出版信息

Leuk Res Rep. 2024 May 24;21:100464. doi: 10.1016/j.lrr.2024.100464. eCollection 2024.

Abstract

Mixed-phenotype acute leukemia (MPAL) is a rare form of leukemia with ambiguous lineage, and there are challenges in accurately diagnosing this entity according to formal criteria. Here we report a case which was initially diagnosed as "AML" based on atypical peripheral blood flow cytometry that was subsequently determined to be B-ALL with rearrangement based on marrow results. Although rearrangements represent a defining genetic abnormality for acute leukemia of ambiguous lineage, this case did not meet the criteria for MPAL based on WHO 2022 criteria. This case highlights the diagnostic challenges of MPAL and the potential limitations of the current classification. We discuss the most appropriate workup and management of these patients and identify areas for future study.

摘要

混合表型急性白血病(MPAL)是一种具有模糊谱系的罕见白血病形式,根据正式标准准确诊断该实体存在挑战。在此,我们报告一例最初根据非典型外周血流式细胞术诊断为“急性髓系白血病(AML)”的病例,随后根据骨髓结果确定为伴有重排的B淋巴细胞白血病(B-ALL)。尽管重排是具有模糊谱系的急性白血病的决定性遗传异常,但根据世界卫生组织(WHO)2022标准,该病例不符合MPAL的标准。该病例突出了MPAL的诊断挑战以及当前分类的潜在局限性。我们讨论了这些患者最合适的检查方法和管理措施,并确定了未来研究的领域。

相似文献

1
Acute leukemia with rearrangement: A master of disguise.
Leuk Res Rep. 2024 May 24;21:100464. doi: 10.1016/j.lrr.2024.100464. eCollection 2024.
3
Cryptic and atypical KMT2A-USP2 and KMT2A-USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia.
Genes Chromosomes Cancer. 2020 Jul;59(7):422-427. doi: 10.1002/gcc.22842. Epub 2020 Mar 26.
4
Multiparameter flow cytometry applications in the diagnosis of mixed phenotype acute leukemia.
Cytometry B Clin Cytom. 2019 May;96(3):183-194. doi: 10.1002/cyto.b.21783. Epub 2019 Apr 29.
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.
8
Acute Leukemias of Ambiguous Lineage: Clarification on Lineage Specificity.
Surg Pathol Clin. 2019 Sep;12(3):687-697. doi: 10.1016/j.path.2019.03.008.
9
Multiparametric Flow Cytometry in Mixed Phenotype Acute Leukemia.
Indian J Hematol Blood Transfus. 2019 Jul;35(3):451-458. doi: 10.1007/s12288-019-01101-0. Epub 2019 Feb 13.
10
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.

本文引用的文献

1
The menin inhibitor revumenib in KMT2A-rearranged or NPM1-mutant leukaemia.
Nature. 2023 Mar;615(7954):920-924. doi: 10.1038/s41586-023-05812-3. Epub 2023 Mar 15.
2
Mixed-Phenotype Acute Leukemia: Clinical Diagnosis and Therapeutic Strategies.
Biomedicines. 2022 Aug 15;10(8):1974. doi: 10.3390/biomedicines10081974.
4
Lineage Switch in an Infant B-Lymphoblastic Leukemia With t(1;11)(p32;q23); , Following Blinatumomab Therapy.
Pediatr Dev Pathol. 2021 Jul-Aug;24(4):378-382. doi: 10.1177/10935266211001308. Epub 2021 Mar 22.
5
Mixed Phenotype Acute Leukemia: Current Approaches to Diagnosis and Treatment.
Curr Oncol Rep. 2021 Feb 5;23(2):22. doi: 10.1007/s11912-020-01010-w.
7
International cooperative study identifies treatment strategy in childhood ambiguous lineage leukemia.
Blood. 2018 Jul 19;132(3):264-276. doi: 10.1182/blood-2017-12-821363. Epub 2018 May 2.
8
Therapy for children and adults with mixed phenotype acute leukemia: a systematic review and meta-analysis.
Leukemia. 2018 Jul;32(7):1515-1528. doi: 10.1038/s41375-018-0058-4. Epub 2018 Feb 27.
9
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.
10
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验