Gulati Rohit, Alkhatib Yaser, Donthireddy Vijayalakshmi, Felicella Michelle Madden, Menon Madhu P, Inamdar Kedar V
Henry Ford Hospital, 2799 W. Grand Boulevard, Detroit, MI 48202, USA.
Case Rep Pathol. 2015;2015:380451. doi: 10.1155/2015/380451. Epub 2015 Dec 24.
Blast phase in chronic myelogenous leukemia (CML) has rarely been reported to involve extramedullary sites like skin, lymph nodes, and central nervous system. Clinical history, characteristic hematologic findings (elevated leukocyte counts, myelocytic predominance, and basophilia), and Philadelphia chromosome are of high diagnostic significance especially in isolated extramedullary presentations. We describe a unique case of CML relapse with blast phase involving the eye. A 66-year-old man with a known diagnosis of CML on imatinib and in molecular remission for 3 years presented with a painful blind eye. Histologic examination revealed diffuse involvement of choroid, iris, vitreous humor, and the optic nerve by blast cells. The blasts expressed CD34, aberrant TdT, and a myeloid phenotype (CD13, CD33, and CD117). Fluorescence in situ hybridization (FISH) of vitreous fluid detected BCR-ABL1 gene rearrangement. Additionally, trisomy 8 and gains of 9 and 22 were seen which were not present in the initial diagnostic marrow study 3 years ago. At relapse, the bone marrow, peripheral blood, and the cerebrospinal fluid were not involved by CML. Patient received induction chemotherapy and single dose prophylactic intrathecal methotrexate and was maintained on antityrosine kinase therapy and eventually underwent allogenic stem cell transplantation.
慢性髓性白血病（CML）的急变期很少有累及皮肤、淋巴结和中枢神经系统等髓外部位的报道。临床病史、特征性血液学表现（白细胞计数升高、以髓细胞为主及嗜碱性粒细胞增多）和费城染色体具有很高的诊断意义，尤其是在孤立的髓外表现中。我们描述了1例CML急变期复发累及眼部的独特病例。1名66岁男性，已知诊断为CML，服用伊马替尼且处于分子缓解状态3年，出现患眼疼痛、失明。组织学检查显示原始细胞弥漫性累及脉络膜、虹膜、玻璃体和视神经。原始细胞表达CD34、异常末端脱氧核苷酸转移酶和髓系表型（CD13、CD33和CD117）。玻璃体荧光原位杂交（FISH）检测到BCR-ABL1基因重排。此外，还发现了8号染色体三体以及9号和22号染色体增加，而3年前初始诊断时的骨髓检查中并未出现这些情况。复发时，骨髓、外周血和脑脊液均未被CML累及。患者接受了诱导化疗和单剂量鞘内预防性甲氨蝶呤治疗，并继续接受抗酪氨酸激酶治疗，最终接受了异基因干细胞移植。
