[骨髓增生异常综合征伴der (1;7)(q10;p10)并发嗜酸性粒细胞增多和组织性肺炎]。

Aya Komura, Yusuke Meguri, Chisato Matsubara, Hideaki Fujiwara, Ryoya Yukawa, Kenta Hayashino, Makoto Nakamura, Chikamasa Yoshida, Kazuhiko Yamamoto, Ken-Ichi Matsuoka, Nobuharu Fujii, Yoshinobu Maeda, Kenji Imajo
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引用次数: 0

摘要

不平衡易位(1;7)(q10;p10)是骨髓增生异常综合征(MDS)的特征性细胞遗传学异常。一名63岁男性因发热及肺部疾病来我院就诊。骨髓细胞染色体分析4个中期均显示46、XY、+1、der (1;7)(q10;p10)。患者被诊断为MDS。支气管镜检查显示组织性肺炎。患者的嗜酸性粒细胞计数在30天后上升到39%。发热、呼吸困难加重,同时出现皮疹(全身红斑)。因此,患者开始服用阿扎胞苷和皮质类固醇。虽然用这两种药物治疗可以暂时控制疾病进展,但患者骨髓中WT-1值和成髓细胞百分比增加。因此,患者接受了来自其单倍体相同供体女儿的造血干细胞移植。有报道表明伴有der (1;7)(q10;p10)的MDS患者预后优于伴有-7/7q-等其他异常的患者。然而,报告的严重并发症的病例预后很差。MDS合并der (1;7)(q10;p10)合并嗜酸性粒细胞增多和组织性肺炎未见报道,预计预后极差。我们的病例提示,在病情恶化之前,这类病例可能很快需要进行造血干细胞移植。
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[Myelodysplastic syndrome with der (1;7)(q10;p10) complicated with eosinophilia and organizing pneumonia].

The unbalanced translocation der (1;7)(q10;p10) is a characteristic cytogenetic abnormality observed in myelodysplastic syndrome (MDS). A 63-year-old man presented to our hospital with fever and lung disease. The chromosomal analysis of bone marrow cells showed 46, XY, +1, der (1;7)(q10;p10) in all four metaphases. The patient was diagnosed with MDS. Bronchoscope examination revealed organizing pneumonia. The patient's eosinophil count rose to 39% after 30 days. His fever and dyspnea worsened, and a skin rash (systemic erythema) appeared simultaneously. Therefore, the patient was commenced on azacitidine and corticosteroids. Although treatment with both drugs could control disease progression transiently, the WT-1 value and the percentage of myeloblasts in the patient's bone marrow increased. Therefore, the patient received hematopoietic stem cell transplantation from his haplo-identical donor daughter. Some reports have demonstrated that patients with MDS with der (1;7)(q10;p10) have better prognosis than those with other abnormalities, such as -7/7q-. However, reported cases with severe complications show very poor prognosis. MDS with der (1;7)(q10;p10) complicated by eosinophilia and organizing pneumonia have not been reported, and its prognosis is expected to be very poor. Our case suggests that such cases might quickly require hematopoietic stem cell transplantation before the disease worsens.

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