Wang Sa A, Galili Naomi, Cerny Jan, Sechman Eric, Chen Su Sin, Loew Jerome, Liu Qin, Fadare Oluwole, Hasserjian Robert, Jones Dan, Qawi Huma, Woda Bruce, Raza Azra
Department of Medicine, University of Massachusetts Medical Center, Worcester, MA 01605, USA.
Am J Clin Pathol. 2006 Nov;126(5):789-97. doi: 10.1309/FU04-P779-U310-R3EE.
The majority of chronic myelomonocytic leukemia (CMML) cases arise de novo; cases evolving from preexisting myelodysplasia (MDS) or myeloproliferative diseases have not been well-studied. We conducted the present study to determine the clinicopathologic features and to study possible underlying molecular and cytogenetic mechanisms involved in this evolution. Between April 1995 and November 2005, we identified 120 CMML cases, of which 20 (16.7%) had a previous diagnosis of MDS. Of the 20 patients with MDS, 6 had relative monocytosis at diagnosis. At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression. The median time to evolution from MDS to CMML was 29 months, and the median survival following CMML development was 13 months. Three cases (17%) transformed to acute myeloid leukemia. These findings indicate that in some cases of otherwise typical MDS, the progenitor cells may have some capacity for monocytic proliferation at diagnosis and manifest rapid disease progression once a monocytic proliferation supervenes.
大多数慢性粒单核细胞白血病（CMML）病例为原发性；由先前存在的骨髓增生异常综合征（MDS）或骨髓增殖性疾病演变而来的病例尚未得到充分研究。我们开展本研究以确定其临床病理特征，并研究这种演变过程中可能涉及的潜在分子和细胞遗传学机制。在1995年4月至2005年11月期间，我们确定了120例CMML病例，其中20例（16.7%）之前诊断为MDS。在这20例MDS患者中，6例在诊断时存在相对单核细胞增多。在从MDS演变为CMML时，未出现JAK2（V617F）、FLT3（ITD）、K-ras-2或N-ras突变，17例可评估病例中仅1例（6%）出现细胞遗传学进展。从MDS演变为CMML的中位时间为29个月，CMML发生后的中位生存期为13个月。3例（17%）转变为急性髓系白血病。这些发现表明，在一些原本典型的MDS病例中，祖细胞在诊断时可能具有一定的单核细胞增殖能力，一旦单核细胞增殖占主导，疾病就会迅速进展。
