背景:具有BCR/ABL突变(Ph+B-LBL)的B淋巴母细胞淋巴瘤(B-LBL)是儿童和成人罕见的癌症类型。其临床表现与其他类型淋巴瘤相似。然而,靶向治疗可以显著改善Ph+B-LBL的预后。
方法:一名19岁的O型血男性,Rh+于2018年8月14日入院,因反复发烧和低细胞血症6个月。
方法:血常规检查显示全血细胞减少。骨髓样本流式细胞术(FCM)检查显示异常细胞占有核细胞的2.27%,并被分类为异常的早期B系淋巴母细胞。FISH检测显示BCR/ABL阳性细胞率为13.6%。核型分析显示46,XY,t(9;22)(q34;q11)。ABL激酶上BCR/ABL突变的分子分析显示BCR/ABLT315I突变。患者被诊断为具有BCR/ABL突变的B-LBL(Ph+B-LBL)。
方法:患者给予VDPI方案化疗(长春瑞滨,柔红霉素,泼尼松,伊马替尼)。
结果:患者在治疗2个疗程后达到完全缓解,随后是一个疗程的克拉霉素方案和另外两个疗程的VDPI方案。截至2021年3月10日,患者仍处于完全缓解状态。
结论:在B-LBL中,其中一些患者可能发生BCR/ABL突变。指导病理学家进行适当的基因突变检测,除了常规的免疫组织化学检查,以确保准确诊断并使用靶向药物进行治疗。根据文献和我们的研究结果,似乎强化化疗加TKI方案对诱导完全缓解有效,和全SCT应用作长期策略。
BACKGROUND: B-lymphoblastic lymphoma (B-LBL) with BCR/ABL mutation (Ph+ B-LBL) is a rare type of cancer in both childhood and adults. Its clinical manifestations are similar to those of other types lymphoma. However, the targeted therapy can substantially improve the outcome of Ph+ B-LBL.
METHODS: A 19-year-old male with blood type O, Rh+ was admitted into our hospital on August 14, 2018, due to a recurrent fever and hypocytosis for 6 months.
METHODS: Routine blood exam showed pancytopenia. Bone marrow sample flow cytometry (FCM) exam showed abnormal cells were 2.27% of the nucleated cells, and was classified as the abnormal early B-lineage lymphoblastic cells. FISH testing showed the BCR/ABL positive cells were 13.6%. Karyotype analysis showed the 46, XY, t(9;22)(q34;q11). Molecular analysis of BCR/ABL mutation on ABL kinase showed that BCR/ABL T315I mutation. Patient was diagnosed with B-LBL with BCR/ABL mutation (Ph+ B-LBL).
METHODS: The patient was given chemotherapy with VDPI regimen (Vinorelbine, daunorubicin, prednisone, imatinib).
RESULTS: The patient achieved complete remission after 2 courses\' treatment, followed by one course of clarithromycin regimen and another two courses of VDPI regimen. Patient remains in complete remission as of March 10, 2021.
CONCLUSIONS: In B-LBL, a BCR/ABL mutation can happen in some of these patients. It is important to guide the pathologist to perform appropriate gene mutation detection, in addition to routine Immunohistochemistry test, to ensure an accurate diagnosis and use the targeted agent for treatment. According to the literature and our results, it seems that intensive chemotherapy plus TKI regimen is effective in inducing complete remission, and allo-SCT should be used as a long-term strategy.