一名患有13号染色体长臂缺失（del(13q)）的再生障碍性贫血患者出现自发性临床和细胞遗传学缓解。

Spontaneous clinical and cytogenetic remission of aplastic anemia in a patient with del(13q).

作者信息

Saitoh Takashi, Saiki Minoru, Kumagai Takao, Kura Yoshimasa, Sawada Umihiko, Horie Takashi

机构信息

First Department of Internal Medicine, Nihon University School of Medicine, 30-1 Oyaguchi-kamimachi, Itabashi-ku, Tokyo 173-8610, Japan.

出版信息

Cancer Genet Cytogenet. 2002 Jul 15;136(2):126-8. doi: 10.1016/s0165-4608(02)00519-8.

DOI:10.1016/s0165-4608(02)00519-8

PMID:12237236

Abstract

We describe the case of a 64-year-old Japanese man with pancytopenia. Bone marrow biopsy findings were consistent with aplastic anemia. The patient was treated by transfusions without immunosuppressive therapy. Chromosome analysis of bone marrow cells at 6 months after onset showed a 46,XY,del(13) (q14q22) karyotype. The pancytopenia resolved gradually over the next 5 years; chromosome analysis of bone marrow cells at that time yielded normal findings. To our knowledge, this is the first report of spontaneous hematologic and cytogenetic remission of aplastic anemia. These findings suggest that the abnormal clone with deletion of the long arm of chromosome 13 was not sufficient for clonal evolution in aplastic anemia in this case.

摘要

我们描述了一名64岁患有全血细胞减少症的日本男性病例。骨髓活检结果符合再生障碍性贫血。该患者接受了输血治疗，未进行免疫抑制治疗。发病6个月时对骨髓细胞进行染色体分析，显示核型为46,XY,del(13)(q14q22)。在接下来的5年里，全血细胞减少症逐渐缓解；当时对骨髓细胞进行染色体分析结果正常。据我们所知，这是再生障碍性贫血自发血液学和细胞遗传学缓解的首例报告。这些发现表明，在该病例中，13号染色体长臂缺失的异常克隆不足以导致再生障碍性贫血的克隆进化。