A case of juvenile myelomonocytic leukemia with concomitant cytomegalovirus infection
A case of juvenile myelomonocytic leukemia with concomitant cytomegalovirus infection
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DOI：
10.1097/01.mph.0000133599.34635.90
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发表时间：
2004-09-01
影响因子：
1.2
通讯作者：
Komada, Y
中科院分区：
文献类型：
--
作者：
Toyoda, H;Ido, M;Komada, Y
婴儿巨细胞病毒（CMV）相关性疾病和青少年粒单核细胞白血病（JMML）经常表现出相似的临床特征，因此鉴别诊断往往是困难的。需要对这些疾病进行早期和明确的诊断，因为它们的治疗方法非常不同。作者描述了一个2个月大的日本女孩与JMML和CMV感染。用过氧化物酶标记的单克隆抗体HRP-C7对白细胞进行免疫染色，检测CMV抗原。为了评估克隆性，X染色体失活模式进行了评估，使用聚合酶链反应分析的人雄激素受体基因与或不与HhaI或HpaII的染色体DNA预消化。患者在诊断时显示单核细胞单克隆来源的证据。尽管之前曾在两名患者中报告过模仿JMML的CMV感染，但据作者所知，这是第一份基于X染色体失活模式研究描述JMML的坚定和明确诊断的报告。
Infantile cytomegalovirus (CMV)-associated disease and juvenile myelomonocytic leukemia (JMML) frequently present with similar clinical features, and thus the differential diagnosis is often difficult. An early and definite diagnosis of these disorders is required because their therapeutic approaches are very different. The authors describe a 2-month-old Japanese girl with JMML and CMV infection. The CMV antigen was detected by immunologic staining of leukocytes using the peroxidase-labeled monoclonal antibody HRP-C7. To assess clonality, the X-chromosome inactivation pattern was evaluated using polymerase chain reaction analysis of the human androgen receptor gene with or without predigestion of chromosomal DNA with HhaI or HpaII. The patient showed evidence of monoclonal origin of mononuclear cells at diagnosis. Although CMV infection mimicking JMML has previously been reported in two patients, to the authors' knowledge this is the first report describing a firm and definitive diagnosis of JMML based on the study of X-chromosome inactivation patterns.