Theodossiou C, Scalise A, Silverman L, Najfeld V
Tumor Cytogenetics Laboratory, Poly Annenberg Levy Hematology Center, Mount Sinai School of Medicine, New York.
Cancer Genet Cytogenet. 1992 Nov;64(1):56-9. doi: 10.1016/0165-4608(92)90323-z.
A patient with myelodysplastic syndrome (MDS) and a 47,XY,+21 karyotype at diagnosis, was documented to have a clonal chromosome 21 rearrangement, i(21q), four months before transformation to acute biphenotypic leukemia. For 4 months after transformation, isochromosome 21 persisted while the patient was receiving treatment with zidovudine. Vitamin D3 was added to zidovudine for an additional month, during which time the trisomy 21 clone reappeared as the predominant cell population. The unique aspects of this patient are the atypical evolution of chromosome 21, the transformation to biphenotypic leukemia, and the occurrence of i(21q) associated with biphenotypic leukemia evolving from an MDS.
一名诊断为骨髓增生异常综合征（MDS）且核型为47,XY,+21的患者，在转化为急性双表型白血病前4个月被记录存在克隆性21号染色体重排，即i(21q)。转化后4个月，患者接受齐多夫定治疗期间，等臂染色体21持续存在。在齐多夫定治疗基础上加用维生素D3一个月，在此期间，21三体克隆重新出现成为主要细胞群体。该患者的独特之处在于21号染色体的非典型演变、向双表型白血病的转化以及与源自MDS的双表型白血病相关的i(21q)的出现。
