Department of Pathology, University of New Mexico, Albuquerque, New Mexico, USA.
J Clin Pathol. 2009 Dec;62(12):1147-9. doi: 10.1136/jcp.2009.067876. Epub 2009 Sep 2.
A case of systemic mastocytosis associated with a clonal haematological non-mast cell lineage disease (SM-AHNMD), where the associated disease is acute erythroid leukaemia (erythroid/myeloid type), is reported. Interestingly, molecular studies showed the KIT(D816V+) mutation not only in the mast cells, but also in the myeloid blast population and the leukaemic erythroid cells. As is the case with most erythroid leukaemias, the patient had a very aggressive clinical course and died shortly after diagnosis. It is believed that this is the first reported case of systemic mastocytosis with erythroid leukaemia where the KIT(D816V+) mutation was detected in all three cell types. Molecular findings provide evidence for derivation of these seemingly morphologically distinct lesions from the same clonal precursor cell. From a practice standpoint, this case illustrates the importance of definitively diagnosing the associated non-mast cell lineage disease due to its prognostic implications.
本文报告了一例伴有克隆性血液系统非肥大细胞谱系疾病（SM-AHNMD）的系统性肥大细胞增多症病例，其中相关疾病为急性红细胞白血病（红系/髓系）。有趣的是，分子研究显示 KIT(D816V+)突变不仅存在于肥大细胞中，也存在于髓系原始细胞群体和白血病性红系细胞中。与大多数红细胞白血病一样，该患者的临床病程非常侵袭性，在诊断后不久死亡。据信，这是首例报道的系统性肥大细胞增多症伴红细胞白血病病例，其中 KIT(D816V+)突变在这三种细胞类型中均被检测到。分子研究结果为这些形态上明显不同的病变来源于同一克隆前体细胞提供了证据。从实践的角度来看，由于其预后意义，该病例说明了明确诊断相关非肥大细胞谱系疾病的重要性。
