Balducci L, Weitzner S, Beghe C, Morrison F S
Arch Intern Med. 1978 May;138(5):794-5. doi: 10.1001/archinte.138.5.794.
A 52-year-old man had aregenerative anemia unresponsive to pyridoxine hydrochloride. Acute leukemia developed, and he died four months after diagnosis. At autopsy he had acute megakaryocytic leukemia with involvement of bone marrow, liver, spleen, adrenals, kidneys, and thyroid. Chromosomal analysis revealed absence of both diploid and Ph1 chromosomes. A mode of 45 chromosomes and aneuploidy were present. This is similar to the only other case with chromosomal studies. Of the 15 acceptable documented cases, eight were men and seven were women. Their age varied from 28 to 76 (mean, 55) years. Only two were less than 40 years of age. Most had pancytopenia, and all were dead within six months of diagnosis.
一名52岁男性患有对盐酸吡哆醇无反应的再生障碍性贫血。随后发展为急性白血病,诊断后四个月死亡。尸检发现他患有急性巨核细胞白血病,累及骨髓、肝脏、脾脏、肾上腺、肾脏和甲状腺。染色体分析显示二倍体和Ph1染色体均缺失。存在45条染色体的核型和非整倍体。这与另一例进行了染色体研究的病例相似。在15例可接受的记录病例中,8例为男性,7例为女性。他们的年龄从28岁到76岁不等(平均55岁)。只有两例年龄小于40岁。大多数患者全血细胞减少,所有患者均在诊断后六个月内死亡。