模仿2017年世界卫生组织“伴有复发性基因异常的急性髓系白血病”的染色体结构重排：三例病例研究及文献复习
Constitutional chromosome rearrangements that mimic the 2017 world health organization "acute myeloid leukemia with recurrent genetic abnormalities": A study of three cases and review of the literature.
作者信息
Peterson Jess F, Pitel Beth A, Smoley Stephanie A, Smadbeck James B, Johnson Sarah H, Vasmatzis George, Pearce Kathryn E, He Rong, Kelemen Katalin, Al-Mondhiry Hamid A B, Lamparella Nicholas E, Hoppman Nicole L, Kearney Hutton M, Baughn Linda B, Ketterling Rhett P, Greipp Patricia T
机构信息
Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics and Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, United States.
Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics and Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, United States.
出版信息
Cancer Genet. 2019 Jan;230:37-46. doi: 10.1016/j.cancergen.2018.11.005. Epub 2018 Nov 20.
OBJECTIVES
To identify and characterize constitutional chromosomal rearrangements that mimic recurrent genetic abnormalities in acute myeloid leukemia (AML).
METHODS
Bone marrow and blood chromosome studies were reviewed to identify constitutional rearrangements that resemble those designated by the 2017 revised World Health Organization (WHO) "AML with recurrent genetic abnormalities". Mate-pair sequencing (MPseq) was performed on cases with constitutional chromosome mimics of recurrent AML abnormalities to further define the rearrangement breakpoints.
RESULTS
Three cases with constitutional rearrangements were identified, including t(6;9)(p23;q34), inv(16)(p13.1q22), and t(9;22)(q34.1;q12.2). Two cases were bone marrow specimens being evaluated for hematologic neoplasms, while one case was a blood specimen being evaluated for primary ovarian insufficiency. MPseq provided high-resolution and precise rearrangement breakpoints, and resolved the atypical FISH results generated with each rearrangement.
CONCLUSIONS
Our findings illustrate that constitutional rearrangements can mimic recurrent genetic abnormalities observed in AML, and we emphasize the importance of correlating genetic data with clinical and hematopathologic information.
目的
识别并表征模拟急性髓系白血病（AML）中复发性基因异常的染色体结构重排。
方法
回顾骨髓和血液染色体研究，以识别类似于2017年修订的世界卫生组织（WHO）“伴有复发性基因异常的AML”中所指定的染色体结构重排。对具有复发性AML异常的染色体结构模拟的病例进行配对末端测序（MPseq），以进一步确定重排断点。
结果
鉴定出3例具有染色体结构重排的病例，包括t(6;9)(p23;q34)、inv(16)(p13.1q22)和t(9;22)(q34.1;q12.2)。2例为正在评估血液系统肿瘤的骨髓标本，1例为正在评估原发性卵巢功能不全的血液标本。MPseq提供了高分辨率和精确的重排断点，并解决了每种重排产生的非典型荧光原位杂交（FISH）结果。
结论
我们的研究结果表明，染色体结构重排可模拟AML中观察到的复发性基因异常，并且我们强调将基因数据与临床和血液病理学信息相关联的重要性。
Zotero 插件