Gomyo H, Murayama T, Kohfuku J, Mizuno I, Kajimoto K, Koizumi T, Imoto S
Department of Medicine, Hyogo Medical Center for Adults.
Rinsho Ketsueki. 2000 Aug;41(8):664-70.
A 51-year-old man was admitted for treatment of severe thrombocytopenia in May 1997. A diagnosis of MDS RA (refractory thrombocytopenia; RTC) was made by bone marrow examination, which revealed mild marrow hypoplasia and a reduced number of megakaryocytes accompanied by micromegakaryocytes and hypolobular megakaryocytes. Chromosome analysis demonstrated 46, XY, t(5;7) (q31;q22) in all 20 cells examined. The patient received only supportive therapy including platelet transfusion, until leukocytosis and monocytosis gradually developed in November 1998. In view of a marked increase in the number of monocytes (more than 3,000/microliter), a diagnosis of CMML was made in December 1998. As the leukocytosis progressed, various inflammatory symptoms such as facial erythema and endophthalmitis developed. Administration of interferon alpha (IFN alpha) unexpectedly worsened the leukocytosis and monocytosis, suggesting abnormal responses of these cells to IFN alpha. Detailed molecular analysis of these cells might reveal a novel mechanism of leukemogenesis associated with 5q31.
一名51岁男性于1997年5月因严重血小板减少症入院治疗。通过骨髓检查确诊为骨髓增生异常综合征难治性贫血（RTC），结果显示骨髓轻度发育不全，巨核细胞数量减少，伴有小巨核细胞和分叶过少的巨核细胞。染色体分析在所有检测的20个细胞中均显示为46，XY，t(5;7) (q31;q22)。该患者仅接受了包括血小板输注在内的支持性治疗，直到1998年11月逐渐出现白细胞增多和单核细胞增多。鉴于单核细胞数量显著增加（超过3000/微升），1998年12月诊断为慢性粒-单核细胞白血病。随着白细胞增多的进展，出现了各种炎症症状，如面部红斑和眼内炎。给予α干扰素（IFNα）意外地使白细胞增多和单核细胞增多加重，提示这些细胞对IFNα反应异常。对这些细胞进行详细的分子分析可能会揭示与5q31相关的白血病发生新机制。
