Vallejo C, García-Marcos M A, Del Cañizo M C, Orfao A, Almeida J, Escribano L, San Miguel J F, Ríos A
Servicio de Hematología, Hospital Universitario de Salamanca.
Med Clin (Barc). 1997 Sep 20;109(9):340-2.
Syndrome of abnormal chromatin clumping in leucocytes syndrome (ACCLS) is an uncommon entity which shares clinical and biological features with the myelodysplastic (MDS) and chronic myeloproliferative syndrome. In fact, as some authors consider ACCLS a new type of MDS, others maintain that it is in Ph'negative/bcr-abl negative chronic myeloid leukaemia. A new case of ACCLS appeared in a 68 year old woman, who presented with anaemic symptoms, bleeding and recurrent infections, and a haematological picture including progressive macrocytic anemia, thrombocytopenia and leuco-erythroblastosis. Marrow hypercellularity with granulocytic hyperplasia, and mature granulocytes presenting nuclear hyposegmentation and large peripheral blocks of chromatin separated by clear zones were the characteristic features of this case. No cytogenetic abnormalities were found and DNA flow-cytometry content was normal (euploid), supporting the thought that a disequilibrium exists in the hetero-chromatin/eucromatin ration in AACLS. Reverse PCR for bcr-abl transcripts was negative. The cell-cycle-phase analysis showed a high fraction of S-cells in the bone marrow (27%) in contrast to a very low S-phase (0.2%) in the peripheral blood, pattern that is different from both CMML and CML. In vitro clonogenic assays showed a high colony forming capacity and a certain grade of autonomous proliferation of the bone marrow cells, which is reminiscent of the CMML growth behaviour in culture. The patient was treated with vitamin D3, low dose Ara-C, prednisone and hydroxyurea until her demise, fifteen months after diagnosis. In total, the patient received 47 units of packed cells and 114 of platelet concentrates, and was transfused only when she presented anaemic or hemorrhagic symptoms. These clinical and haematological features suggest that ACCLS is a distinct entity that should be considered a sixth type of MDS, beside CMML, with which it has much in common.
白细胞染色质聚集异常综合征（ACCLS）是一种罕见的病症，它与骨髓增生异常综合征（MDS）和慢性骨髓增殖性综合征具有临床和生物学特征。事实上，一些作者认为ACCLS是一种新型的MDS，而另一些人则认为它属于Ph'阴性/bcr-abl阴性慢性髓性白血病。一名68岁女性出现了ACCLS的新病例，她表现出贫血症状、出血和反复感染，血液学检查结果包括进行性大细胞贫血、血小板减少和幼粒-幼红细胞增多。骨髓细胞增多伴粒细胞增生，成熟粒细胞呈现核分叶减少以及被透明区隔开的大的周边染色质块，这些是该病例的特征性表现。未发现细胞遗传学异常，DNA流式细胞术含量正常（整倍体），这支持了ACCLS中异染色质/常染色质比例存在失衡的观点。bcr-abl转录本的逆转录PCR检测为阴性。细胞周期阶段分析显示，骨髓中S期细胞比例很高（27%），而外周血中S期比例非常低（0.2%），这种模式与慢性粒-单核细胞白血病（CMML）和慢性髓性白血病（CML）均不同。体外克隆形成试验显示骨髓细胞具有高集落形成能力和一定程度的自主增殖，这让人联想到CMML在培养中的生长行为。该患者接受了维生素D3、小剂量阿糖胞苷、泼尼松和羟基脲治疗，直至诊断后15个月死亡。患者总共接受了47单位的浓缩红细胞和114单位的血小板浓缩液，仅在出现贫血或出血症状时才进行输血。这些临床和血液学特征表明，ACCLS是一个独特的实体，应被视为MDS的第六种类型，它与CMML有许多共同之处。
