Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia.
Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia.
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DOI：
10.1007/s12308-009-0023-2
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发表时间：
2009-03
影响因子：
0.6
通讯作者：
Brynes, Russell K
中科院分区：
文献类型：
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作者：
Pullarkat, Sheeja T;Pullarkat, Vinod;Kroft, Steven H;Wilson, Carla S;Ahsanuddin, Arshad N;Mann, Karen P;Thein, Maung;Grody, Wayne W;Brynes, Russell K
尽管20-25%的t(8;21)（q22;q22）急性髓性白血病（AML）病例中存在KIT突变，但同时发生全身性肥大细胞增多症（SM）的病例极为罕见。我们研究了10例t(8;21) AML和SM患者（6例来自我们的机构，4例来自已发表的文献）与t(8;21) AML和SM相关的SM的临床病理特征。在这些病例中，大多数SM是在化疗后确诊的，当时肥大细胞浸润明显。在4例病例中，9q缺失是另一个细胞遗传学异常。10名患者中有4名在标准化疗后未能达到缓解，10名患者中有7名死于AML。在异体造血干细胞移植后获得持久缓解的两例患者中，尽管白血病缓解，受体来源的肿瘤骨髓肥大细胞仍然存在。与t(8;21) AML相关的SM预后不佳；因此，在诊断t(8;21) AML时检测并发SM具有重要的预后意义。
Although KIT mutations are present in 20–25% of cases of t(8;21)(q22;q22) acute myeloid leukemia (AML), concurrent development of systemic mastocytosis (SM) is exceedingly rare. We examined the clinicopathologic features of SM associated with t(8;21)(q22;q22) AML in ten patients (six from our institutions and four from published literature) with t(8;21) AML and SM. In the majority of these cases, a definitive diagnosis of SM was made after chemotherapy, when the mast cell infiltrates were prominent. Deletion 9q was an additional cytogenetic abnormality in four cases. Four of the ten patients failed to achieve remission after standard chemotherapy and seven of the ten patients have died of AML. In the two patients who achieved durable remission after allogeneic hematopoietic stem cell transplant, recipient-derived neoplastic bone marrow mast cells persisted despite leukemic remission. SM associated with t(8;21) AML carries a dismal prognosis; therefore, detection of concurrent SM at diagnosis of t(8;21) AML has important prognostic implications.