Choate Lauren A, Jiang Liuyan, Stein Mariam I, Shen Wei, Baughn Linda B, Peterson Jess F
Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, Florida, USA.
Case Rep Hematol. 2023 Jul 3;2023:9771388. doi: 10.1155/2023/9771388. eCollection 2023.
The gene fusion resulting from t(12;22)(p13;q12) has been rarely reported in myeloid neoplasms. We describe a 69-year-old male with newly diagnosed acute myeloid leukemia (AML) with erythroid differentiation and t(12;22)(p13;q12) demonstrated by conventional chromosome studies. Subsequent fluorescence hybridization studies demonstrated a balanced gene rearrangement (at 12p13). To further characterize this translocation, whole-genome sequencing was performed which confirmed t(12;22) with breakpoints involving the and genes. Herein, we describe our case and review the literature to summarize the clinical and laboratory findings in patients with this rare but recurrent gene fusion observed in myeloid neoplasms. Importantly, this case expands the clinical spectrum associated with the gene fusion to include AML with erythroid differentiation. Lastly, this case demonstrates the importance of moving toward more comprehensive molecular testing to fully characterize the driver events in neoplastic genomes.
t(12;22)(p13;q12) 导致的基因融合在髓系肿瘤中鲜有报道。我们描述了一名69岁男性，新诊断为伴有红系分化的急性髓系白血病（AML），常规染色体研究显示存在t(12;22)(p13;q12)。随后的荧光杂交研究显示存在平衡的基因重排（位于12p13）。为进一步明确这种易位，进行了全基因组测序，证实了t(12;22)，其断点涉及 和 基因。在此，我们描述我们的病例并回顾文献，以总结在髓系肿瘤中观察到的这种罕见但复发性基因融合患者的临床和实验室检查结果。重要的是，该病例将与该基因融合相关的临床谱扩展至包括伴有红系分化的AML。最后，该病例证明了采用更全面的分子检测以充分明确肿瘤基因组中驱动事件的重要性。
