伴有原始细胞增多的初发急性髓系白血病（AML）中的5q缺失是否为隐匿性t(7;21)(p22;q22)的替代标志物？1例病例报告及文献复习
Is 5q deletion in de novo Acute Myelogenous Leukemia (AML) with excess blasts a surrogate marker for the cryptic t(7;21)(p22;q22)? A case report and review of literature.
作者信息
Johnston Robert D, Sayedian Farzaneh H, Mendiola Christina, Ehman William, Ortega Veronica, Velagaleti Gopalrao V N
机构信息
Department of Pathology, University of Texas Medical Branch, Galveston, TX, USA.
Department of Pathology and Laboratory Medicine, University of Texas Health, San Antonio, Texas, USA.
出版信息
Cancer Genet. 2022 Apr;262-263:30-34. doi: 10.1016/j.cancergen.2021.12.008. Epub 2021 Dec 24.
Although the 5q- syndrome is common in both de novo and treatment related myelodysplastic syndrome (MDS) and the World Health Organization defined 5q- syndrome as a specific type of MDS, it is less common in acute myelogenous leukemia (AML). Recently, it was suggested that AML with diploidy/tetraploidy and/or 5q alterations may be associated with the cryptic translocation, t(7;21)(p22;q22) resulting in RUNX1-USP42 gene fusion and this association may have been underestimated. Here, we report another case of de novo AML with cryptic t(7;21)(p22;q22) associated with a 5q deletion.
尽管5q-综合征在原发性和治疗相关的骨髓增生异常综合征（MDS）中都很常见，且世界卫生组织将5q-综合征定义为一种特定类型的MDS，但它在急性髓系白血病（AML）中较少见。最近，有人提出，具有二倍体/四倍体和/或5q改变的AML可能与隐匿性易位t(7;21)(p22;q22)相关，该易位导致RUNX1-USP42基因融合，而这种关联可能被低估了。在此，我们报告另一例原发性AML伴隐匿性t(7;21)(p22;q22)且伴有5q缺失的病例。
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