Fukushima Shintaro, Terasaki Mizuhiko, Tajima Yutaka, Shigemori Minoru
Department of Neurosurgery, Kurume University School of Medicine, Fukuoka, Japan.
J Neurosurg. 2006 Dec;105(6):912-5. doi: 10.3171/jns.2006.105.6.912.
Granulocytic sarcomas are rare tumors that occur primarily in patients with acute myelogenous leukemia or other myeloproliferative disorders, are seldom seen in patients with acute promyelocytic leukemia (APL), and have never been reported to occur in the cerebellum. The authors describe the case of a patient with APL who harbored a hemorrhagic granulocytic sarcoma in the cerebellum. This 39-year-old woman presented with cerebellar ataxia. Magnetic resonance images revealed an intraaxial tumor in the cerebellum. Bone marrow samples showing infiltration by leukemic blast cells and data from hematological tests led to a diagnosis of APL. The patient was treated with chemotherapy and surgery. She had no response to chemotherapy and died of progressive intratumoral hemorrhage. Results of histopathological studies and immunohistochemical staining of the cerebellar tumor confirmed a granulocytic sarcoma. Flow cytometry showed that the blast cells were positive for leukocyte common antigen, CD13, and CD33 markers. Bone marrow cytogenetics revealed that the patient had a 46,XX karyotype. Although no cytogenetic abnormality was present, fluorescence in situ hybridization detected a chimeric fusion of PML and RARA. This is the first report to document a granulocytic sarcoma in the cerebellum as the primary presentation in a patient with APL and abnormal coagulation. As predicted by the unusual clinical manifestations and radiological findings, the patient's survival was short. Although central nervous system complications in patients with APL are rare, the data in this case highlight the need for individualized treatment when such conditions occur.
粒细胞肉瘤是罕见肿瘤，主要发生于急性髓系白血病或其他骨髓增殖性疾病患者，在急性早幼粒细胞白血病（APL）患者中少见，且从未有发生于小脑的报道。作者描述了1例APL患者，其小脑存在出血性粒细胞肉瘤。这位39岁女性表现为小脑共济失调。磁共振成像显示小脑有一轴内肿瘤。骨髓样本显示有白血病原始细胞浸润，血液学检查数据确诊为APL。患者接受了化疗和手术治疗。她对化疗无反应，死于进行性肿瘤内出血。小脑肿瘤的组织病理学研究和免疫组化染色结果证实为粒细胞肉瘤。流式细胞术显示原始细胞白细胞共同抗原、CD13和CD33标志物呈阳性。骨髓细胞遗传学显示患者核型为46,XX。虽然未发现细胞遗传学异常，但荧光原位杂交检测到PML和RARA的嵌合融合。这是首例记录以小脑粒细胞肉瘤为主要表现的APL患者且伴有凝血异常的报告。正如异常临床表现和影像学检查结果所预示的，该患者生存期短。虽然APL患者中枢神经系统并发症罕见，但该病例数据凸显了此类情况发生时个体化治疗的必要性。
