Acute Megakaryoblastic Leukemia After Transient Myeloproliferative Disorder With Clonal Karyotype Evolution in a Phenotypically Normal Neonate
Acute Megakaryoblastic Leukemia After Transient Myeloproliferative Disorder With Clonal Karyotype Evolution in a Phenotypically Normal Neonate
复制标题
表型正常新生儿短暂性骨髓增殖性疾病后急性巨核细胞白血病的克隆核型进化
DOI：
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发表时间：
2002
期刊：
影响因子：
--
通讯作者：
J. Batanian
中科院分区：
文献类型：
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作者：
J. Polski;C. Galambos;G. Gale;C. Dunphy;H. Evans;J. Batanian
我们报告了一例短暂性骨髓增殖性疾病（TMD），患者没有唐氏综合症（DS）的特征，但在 TMD 明显自发消退后，出现克隆核型进化，但最终进展为急性巨核细胞白血病（AMKL）。患者患有瘀点、血小板减少症和母细胞血症。在增殖的原始细胞中发现了带有卫星 Y 染色体 (Yqs) 的 21 三体。受刺激的外周血培养证实了 Yqs 的组成起源，但没有揭示任何 21 三体细胞的存在。 3 个月大时，在未刺激的骨髓培养物中检测到 13 号染色体长臂间质缺失 [del(13)(q13q31)] 以及 21 三体性的克隆染色体进化。然而，在 4 个月大时，无需治疗即可获得缓解。当时，细胞遗传学或荧光原位杂交研究均未鉴定出 21 三体和 del(13)(q13q31)。该孩子一直没有症状，直到 20 个月大时贫血和血小板减少促使进行骨髓活检，显示与 AMKL 一致的变化。患有 TMD 的新生儿的克隆核型进化所带来的缓解表明，克隆核型进化并不表明疾病会立即进展。然而，本例 TMD 后发生 AMKL 说明，即使没有 DS，TMD 病例患白血病的风险也会增加。该患者原始细胞的逐渐克隆进化表明，“多次打击”肿瘤发生适用于 TMD 进展为急性白血病。
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.
正常新生儿唐氏型短暂性骨髓增生性疾病。
DOI：
10.1001/archpedi.1990.02150340063024
发表时间：
1990
期刊：
American journal of diseases of children (1960)
影响因子：
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作者：
Ridgway,D;Benda,GI;Magenis,E;Allen,L;Segal,GM;Braziel,RM;Neerhout,RC
通讯作者：
Neerhout,RC
表型正常婴儿的短暂性骨髓增殖综合征。
DOI：
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发表时间：
1985
期刊：
The American journal of pediatric hematology/oncology
影响因子：
--
作者：
Hanna,MD;Melvin,SL;Dow,LW;Williams,D;Dahl,G;Mirro,J
通讯作者：
Mirro,J