Polski Jacek M, Galambos Csaba, Gale Gordon B, Dunphy Cherie H, Evans H Lance, Batanian Jacqueline R
Department of Pathology, University of South Alabama College of Medicine, Mobile, USA.
J Pediatr Hematol Oncol. 2002 Jan;24(1):50-4. doi: 10.1097/00043426-200201000-00014.
We report a case of transient myeloproliferative disorder (TMD) in a neonate without features of Down syndrome (DS) with clonal karyotype evolution, after apparent spontaneous resolution of TMD, but eventually progressing to acute megakaryoblastic leukemia (AMKL). The patient had petechiae, thrombocytopenia, and blastemia. Trisomy 21 with a satellited Y chromosome (Yqs) was found in proliferating blasts. A stimulated peripheral blood culture confirmed the constitutional origin of the Yqs, but did not reveal the presence of any trisomic 21 cell. By the age of 3 months, clonal chromosome evolution in the form of an interstitial deletion of the long-arm of chromosome 13 [del(13)(q13q31)] was detected along with trisomy 21 in unstimulated bone marrow cultures. However, remission was achieved without treatment at the age of 4 months. Trisomy 21 and del(13)(q13q31) were not identified in either cytogenetics or fluorescence in situ hybridization studies at that time. The child was asymptomatic until the age of 20 months when anemia and thrombocytopenia prompted a bone marrow biopsy, revealing changes consistent with AMKL. The remission proceeded by clonal karyotype evolution in a neonate with TMD demonstrates that clonal karyotype evolution does not indicate an immediately progressive disease. However, the development of AMKL after TMD in this case illustrates the increased risk for leukemia in TMD cases, even without DS. The gradual clonal evolution of the blasts in our patient suggests that "multiple hits" oncogenesis applies to TMD progression to acute leukemia.
我们报告了一例新生儿短暂性骨髓增殖性疾病（TMD），该患儿无唐氏综合征（DS）特征，存在克隆性核型演变。TMD明显自发缓解后，最终进展为急性巨核细胞白血病（AMKL）。患儿有瘀点、血小板减少和母细胞血症。在增殖的母细胞中发现了伴有随体Y染色体（Yqs）的21三体。刺激外周血培养证实了Yqs的体质性起源，但未发现任何21三体细胞。3个月大时，在未刺激的骨髓培养中检测到13号染色体长臂间质缺失[del(13)(q13q31)]形式的克隆性染色体演变以及21三体。然而，4个月大时未经治疗即实现缓解。当时在细胞遗传学或荧光原位杂交研究中均未发现21三体和del(13)(q13q31)。患儿直到20个月大时一直无症状，当时贫血和血小板减少促使进行骨髓活检，结果显示与AMKL一致的变化。TMD新生儿通过克隆性核型演变实现缓解表明，克隆性核型演变并不意味着疾病会立即进展。然而，本例中TMD后发生AMKL说明了TMD病例中白血病风险增加，即使没有DS。我们患者母细胞的逐渐克隆演变表明，“多重打击”肿瘤发生机制适用于TMD进展为急性白血病。
