Department of Clinical Laboratory, Fuyang People's Hospital, Fuyang, People's Republic of China.
Hematology. 2024 Dec;29(1):2381170. doi: 10.1080/16078454.2024.2381170. Epub 2024 Jul 22.
Acute myeloid leukemia (AML) with and basophilia is rare in hematologic malignancies with poor prognosis. Due to the small number of clinical cases, it is misdiagnosed and missed frequently, and it is necessary to explore laboratory detection for accurate diagnosis.
We report a case of AML with and basophilia by morphological screening, immunotyping with precise gating, interpretation of FISH results, and RNA transcriptome sequencing, thus laying the accurate diagnosis for clinical treatment.
We confirmed a rare case of AML with rather than by morphological analysis, correct immunophenotyping via precise gating, rejecting one-sided view of FISH positive result and targeted RNA sequencing. Precise analysis and more advanced means avoid misdiagnosis and missed frequently. After accurate diagnosis, venetoclax and decitabine therapy were given instead of imatinib; eventually, the patient achieved a relatively good effect.
Immunophenotype analysis is necessary to detect the expression of CD7 when encountering pseudo-lymphocytes with multilineage dysplasia and basophilia. FISH and RT-PCR are still indispensable means of diagnosis of fusion genes in hematologic malignancies but can only detect a limited number of known partner genes and fusion genes with known break points. NGS can achieve sequence analysis indiscriminately and detect all fusion transcripts theoretically, greatly improving the detection range. NGS sequencing is required for t(4;12)(q11;p13) in AML that are not accompanied by eosinophilia.
伴 和嗜碱性粒细胞增多的急性髓系白血病（AML）在血液系统恶性肿瘤中较为罕见，预后较差。由于临床病例较少，常被误诊和漏诊，有必要探索实验室检测方法以进行准确诊断。
我们通过形态学筛选、精确门控免疫表型、解读 FISH 结果以及 RNA 转录组测序，报告了一例伴 和嗜碱性粒细胞增多的 AML 病例，从而为临床治疗奠定了准确的诊断基础。
我们通过形态学分析、精确门控正确免疫表型鉴定、摒弃 FISH 阳性结果的片面观点以及靶向 RNA 测序，证实了一例罕见的伴 而非 的 AML 病例。精确分析和更先进的手段避免了误诊和漏诊。在准确诊断后，给予 venetoclax 和地西他滨治疗，而非伊马替尼；最终，患者取得了相对较好的效果。
当遇到多谱系发育不良和嗜碱性粒细胞增多的假性淋巴细胞时，有必要进行免疫表型分析以检测 CD7 的表达。FISH 和 RT-PCR 仍然是血液恶性肿瘤中融合基因诊断不可或缺的手段，但只能检测有限数量的已知伙伴基因和具有已知断点的融合基因。NGS 可以无差别地进行序列分析，理论上可以检测所有融合转录本，大大提高了检测范围。对于不伴嗜酸性粒细胞增多的 AML 中 t(4;12)(q11;p13)，需要进行 NGS 测序。
