Cuneo A, Ferrant A, Michaux J L, Demuynck H, Boogaerts M, Louwagie A, Doyen C, Stul M, Cassiman J J, Dal Cin P, Castoldi G, Van den Berghe H
Institute of Hematology, University of Ferrara, Italy.
Haematologica. 1996 Sep-Oct;81(5):423-7.
Little is known about the morphological and clinical features of the minority of acute myeloid leukemias (AML) that carry the t(9;22)(q34;q11) translocation.
Cytologic, cytogenetic and clinical features were studied at diagnosis and during disease evolution in 11 patients presenting with de novo AML. Diagnoses according to the FAB criteria were AML-M2 (3 cases), AML-MO and AML-M4 (2 cases each), AML-M4eos, AML-M5, AML-M6, AML-M7 (1 case each).
Immunophenotyping disclosed positivity for CD33 or CD13 and for the CD34 stem cell antigen in all cases tested. Lymphoid-associated markers (LM) were detected in 7/9 patients. In 5 cases the expression of at least 2 LM was seen. In addition, evidence of clonal rearrangement of the immunoglobulin (Ig) and/or T-cell receptor (TCR) genes was documented in 3/4 evaluable cases. The Ph chromosome was found as the sole change in 5/11 cases; the karyotype reverted to normal in 2/4 patients who achieved complete remission. Rearrangement in the M-bcr region was detected by Southern blotting in 2/7 cases.
This infrequent cytogenetic subset of de novo AML appears to be characterized by heterogeneous cytologic features, with frequent expression of lymphoid markers, and by unfavorable prognosis. The combination of clinical, cytologic and cytogenetic studies is important in distinguishing de novo AML with the t(9;22) from chronic myelogenous leukemia blast crisis.
对于少数携带t(9;22)(q34;q11)易位的急性髓系白血病（AML）的形态学和临床特征了解甚少。
对11例初发AML患者诊断时及疾病进展过程中的细胞学、细胞遗传学和临床特征进行了研究。根据FAB标准诊断为AML-M2（3例）、AML-MO和AML-M4（各2例）、AML-M4eos、AML-M5、AML-M6、AML-M7（各1例）。
免疫表型分析显示，所有检测病例中CD33或CD13以及CD34干细胞抗原均呈阳性。7/9例患者检测到淋巴相关标志物（LM）。5例患者至少有2种LM表达。此外，在3/4例可评估病例中记录到免疫球蛋白（Ig）和/或T细胞受体（TCR）基因的克隆重排证据。5/11例患者中仅发现Ph染色体改变；4例达到完全缓解的患者中有2例核型恢复正常。Southern印迹法在2/7例中检测到M-bcr区域重排。
这种少见的初发AML细胞遗传学亚组似乎具有细胞形态学特征异质性、淋巴标志物频繁表达以及预后不良的特点。临床、细胞学和细胞遗传学研究相结合对于鉴别伴有t(9;22)的初发AML与慢性髓性白血病急变期很重要。
