School of Health Professions, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USA.
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77015, USA.
Genes (Basel). 2023 Dec 8;14(12):2188. doi: 10.3390/genes14122188.
We report a case of myeloproliferative neoplasm, not otherwise specified (MPN-NOS)-transformed AML with rearrangement. Chromosomal analysis indicated a simple abnormal karyotype 46,XY,t(7;17)(q21;q24),t(9;22)(p24;q11.2). Fluorescence in situ hybridization (FISH) using a BCR/ABL1/ASS1 probe set suggested a possible rearrangement and a reflex JAK2 breakapart probe indicated rearrangement, most likely partnered with . Optical genome mapping (OGM) analysis confirmed derived through an inv(9)(p24p13) after a t(9;22)(p13;q11.2) in this case. Due to the complexity of chromosomal aberrations, disruption and/or rearrangement of other genes such as , and were also identified by OGM. Although the functionality and clinical importance of these novel rearrangements were unknown, disruption of these genes might be associated with a poorer response to chemotherapy and disease progression. We also reviewed all cases with rearrangement reported in the literature. In conclusion, a suspected t(9;22)/ rearrangement warrants further characterization with genomic assays such as OGM, whole chromosome sequencing, and RNA sequencing to explore other gene disruptions and/or rearrangements.
我们报告一例伴重现性遗传学异常的未特指骨髓增殖性肿瘤（MPN-NOS）转化的急性髓系白血病。染色体分析显示为单纯性异常核型 46,XY,t(7;17)(q21;q24),t(9;22)(p24;q11.2)。使用 BCR/ABL1/ASS1 探针集的荧光原位杂交（FISH）提示可能存在 重排，而 JAK2 分离探针的反射实验表明 重排，最有可能与 伙伴关系。光学基因组图谱（OGM）分析证实本例中在发生 t(9;22)(p13;q11.2)后通过 inv(9)(p24p13)获得 。由于染色体畸变的复杂性，通过 OGM 还鉴定了其他基因如 、 和 的破坏和/或重排。尽管这些新的重排的功能和临床意义尚不清楚，但这些基因的破坏可能与对化疗反应较差和疾病进展有关。我们还回顾了文献中报道的所有伴 重排的病例。总之，疑似 t(9;22)/ 重排需要进一步通过基因组分析（如 OGM、全染色体测序和 RNA 测序）进行特征分析，以探索其他基因的破坏和/或重排。
