Raanani Pia, Trakhtenbrot Luba, Rechavi Gideon, Rosenthal Esther, Avigdor Abraham, Brok-Simoni Frida, Leiba Merav, Amariglio Ninette, Nagler Arnon, Ben-Bassat Isaac
Institute of Hematology, Sheba Medical Center and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Acta Haematol. 2005;113(3):181-9. doi: 10.1159/000084448.
The Ph1 chromosome has rarely been reported in T-lineage acute lymphoblastic leukemia (T-ALL), and the clinical relevance of this translocation in T-ALL is currently unknown. In chronic myelogenous leukemia (CML) some data indicate derivation of T-cells from the leukemic clone and only a few cases of T-derived blastic crisis have been reported and quite often disputed. Particularly in cases identified initially in blastic crisis it may be difficult to distinguish those from Ph1-positive T-ALL. We herein report 2 patients who presented with a clinical picture of Ph1-positive T-ALL and who raised a differential diagnosis from T-cell blastic crisis of CML. We review the literature and suggest clinical and laboratory features that can help in the diagnosis. According to our literature review, 23 cases of Ph1-positive T-ALL and 44 cases of T-cell blastic crisis of CML, including ours, were reported. Some major differences between the two entities could help in establishing a diagnosis of Ph1-positive T-cell blastic crisis of CML vs. Ph1-positive T-ALL: Male sex and younger age was more predominant in T-ALL. While in most cases of CML blastic crisis there was a history of CML there was no such history in the T-ALL cases. Medullary involvement with lymphoblastic leukemia was present in all cases of T-ALL but only in about half of the cases of CML blastic crisis. None of the CML-blastic crisis cases tested by RT-PCR showed the minor breakpoint transcript, while 2 cases with T-ALL had the minor breakpoint transcript and 1 had both transcripts. Combined morphologic and FISH analysis can help to distinguish between the two entities and was applied in one of our cases. Although both entities carry a severe prognosis, differentiating between them might have clinical relevance, especially in the imatinib era.
Ph1染色体在T系急性淋巴细胞白血病(T-ALL)中鲜有报道,这种易位在T-ALL中的临床相关性目前尚不清楚。在慢性粒细胞白血病(CML)中,一些数据表明T细胞来源于白血病克隆,仅报道过少数几例T系原始细胞危象病例,且常存在争议。特别是在最初诊断为原始细胞危象的病例中,可能难以将其与Ph1阳性T-ALL区分开来。我们在此报告2例表现为Ph1阳性T-ALL临床症状且需要与CML的T细胞原始细胞危象进行鉴别诊断的患者。我们回顾了文献并提出有助于诊断的临床和实验室特征。根据我们的文献回顾,包括我们的病例在内,共报道了23例Ph1阳性T-ALL和44例CML的T细胞原始细胞危象病例。这两种疾病之间的一些主要差异有助于诊断CML的Ph1阳性T细胞原始细胞危象与Ph1阳性T-ALL:男性和较年轻的年龄在T-ALL中更为常见。虽然大多数CML原始细胞危象病例有CML病史,但T-ALL病例中没有此类病史。所有T-ALL病例均有髓系累及淋巴细胞白血病,而CML原始细胞危象病例中只有约一半有髓系累及。通过RT-PCR检测的CML原始细胞危象病例均未显示微小断点转录本,而2例T-ALL病例有微小断点转录本,1例同时有两种转录本。形态学和FISH联合分析有助于区分这两种疾病,我们的1例病例应用了该方法。虽然这两种疾病的预后都很差,但区分它们可能具有临床意义,尤其是在伊马替尼时代。