Agostino Nicole M, Ahmed Basil, Popescu Dan, Gheith Shereen
Lehigh Valley Hospital and Health Network, Department of Hematology/Oncology, Allentown, PA 18105, USA.
Int J Clin Exp Pathol. 2011 Mar;4(3):322-6. Epub 2011 Mar 22.
Myelodysplastic syndrome (MDS) with an isolated deletion of the long arm of chromosome 5 (5q- syndrome) is a distinct subtype of MDS with an indolent course that rarely transforms to acute leukemia. Deletion of the long arm of chromosome 5 has also been reported in rare cases of de novo B-lymphoblastic leukemia. We present two cases of 5q- syndrome with a similar and unusual course of transformation to lymphoblastic leukemia while on Lenalidomide. These two patients achieved an initial response; however, later acquired a second cytogenetic abnormality, became refractory to treatment and evolved into acute leukemia. At the time of transformation, both patients had recurrence of the 5q- abnormality. Review of the literature and the mechanisms of transformation of the 5q-syndrome into an acute leukemia are discussed. Although the relationship between the events in our cases remains unclear, the intriguing similarity between the two cases raises a question whether immune modulators can alter the natural course of MDS. To our knowledge, no similar cases were previously reported in the literature.
伴有孤立性5号染色体长臂缺失的骨髓增生异常综合征（MDS）（5q-综合征）是MDS的一种独特亚型，病程进展缓慢，很少转化为急性白血病。5号染色体长臂缺失在罕见的初发性B淋巴细胞白血病病例中也有报道。我们报告了2例5q-综合征患者，在使用来那度胺治疗期间，发生了相似且不寻常的向淋巴细胞白血病转化的过程。这2例患者起初有反应；然而，后来出现了第二种细胞遗传学异常，对治疗产生耐药，并演变为急性白血病。在转化时，2例患者均再次出现5q-异常。本文讨论了文献回顾以及5q-综合征转化为急性白血病的机制。尽管我们病例中的事件之间的关系尚不清楚，但这2例病例之间有趣的相似性提出了一个问题，即免疫调节剂是否会改变MDS的自然病程。据我们所知，此前文献中未报道过类似病例。
