PDF(Pubmed)
Abstract：
Although bone destruction and hypercalcemia without acute peripheral blast BCR-ABL-positive acute lymphoblastic leukemia (ALL) have been reported in children, they are rare in adults. Herein, we describe a case of BCR-ABL positive ALL with a triploid karyotype, WT1, and CDKN2A mutations with hypercalcemia and bone destruction as the first manifestations. Complete remission (CR) was achieved by induction chemotherapy. BCR-ABL turned negative after treatment with dasatinib. However, computed tomography and whole-body bone scan showed extensive bone destruction. Additionally, bone biopsy showed leukemic infiltration. After treatment with dasatinib and VMCP, leukemia recurred with positive BCR-ABL. The T315I mutation occurred. The patient was surgically diagnosed with calculous cholecystitis and achieved CR2 by postoperative orebatinib and VP regimens. Later, the patient died due to a severe pulmonary infection. BCR-ABL-positive ALL with bone destruction is rare and difficult to control using tyrosine kinase inhibitor chemotherapy alone. Therefore, further exploration of more effective treatments is needed.
摘要：
尽管在儿童中已经报道了骨破坏和高钙血症而没有急性外周母细胞性BCR-ABL阳性急性淋巴细胞白血病（ALL），它们在成年人中很少见。在这里，我们描述了一例BCR-ABL阳性ALL的三倍体核型，WT1和CDKN2A突变以高钙血症和骨破坏为首发表现。通过诱导化疗实现完全缓解(CR)。用达沙替尼治疗后BCR-ABL转阴。然而,计算机断层扫描和全身骨扫描显示广泛的骨破坏。此外,骨活检显示白血病浸润。达沙替尼和VMCP治疗后，白血病复发，BCR-ABL阳性。发生T315I突变。该患者经手术诊断为结石性胆囊炎，并通过术后orebatinib和VP方案获得CR2。稍后，患者因严重肺部感染死亡。具有骨破坏的BCR-ABL阳性ALL是罕见的并且难以单独使用酪氨酸激酶抑制剂化疗来控制。因此,需要进一步探索更有效的治疗方法。
