Cuneo A, Mecucci C, Kerim S, Vandenberghe E, Dal Cin P, Van Orshoven A, Rodhain J, Bosly A, Michaux J L, Martiat P
Centre for Human Genetics, University of Leuven, Belgium.
Blood. 1989 Oct;74(5):1781-90.
Cytologic and cytogenetic results obtained from patients fulfilling the FAB criteria for the diagnosis of acute nonlymphocytic leukemia (ANLL) of megakaryocytic lineage (ANLL-M7) are reported. Eleven cases were de novo ANLL-M7, of whom three presented with acute myelofibrosis. Four cases were megakaryoblastic transformations of chronic myelogenous leukemia (two cases), refractory anemia with excess of blasts (one case), and polycythemia vera (one case). Four patients showed a minority of granular blasts, with occasional Auer rods in one. Positive myeloperoxidase and/or sudan black-B stainings and CD13 positivity in these cases were consistent with the presence of a myeloid involvement. Morphologic evidence of associated myelodysplastic features was detected in all evaluable patients with de novo ANLL-M7. These cytologic findings indicate that ANLL-M7 may frequently represent a multilineage proliferation. Cytogenetic studies revealed -7/7q- and +8, alone or in combination with additional aberrations, in three cases each. Rearrangements involving bands 3q21 or 3q26 were seen in two patients and +21, as an additional aberration, in one. Other structural rearrangements all observed in a single patient were inv(16)(p13q22) at megakaryoblastic relapse with bone marrow eosinophilia, t(13;20)(q13 or 14;q11), del(20)(q11), and der(7)t(7;17)(p14;q22). Most breakpoints of these aberrations are located at bands frequently rearranged in malignant myeloid stem cell disorders. A review of 31 cases of the literature showed a frequent occurrence of -7/7q- and -5/5q- in ANLL-M7. Many of the chromosome aberrations so far described in ANLL-M7 appear to be shared by a spectrum of myeloid neoplasias and may be related to mechanisms conferring proliferative advantage to undifferentiated stem cells.
报告了符合法美英（FAB）诊断标准的巨核细胞系急性非淋巴细胞白血病（ANLL-M7）患者的细胞学和细胞遗传学结果。11例为原发性ANLL-M7，其中3例伴有急性骨髓纤维化。4例为慢性粒细胞白血病的巨核母细胞转化（2例）、原始细胞过多的难治性贫血（1例）和真性红细胞增多症（1例）。4例患者显示少数颗粒状原始细胞，其中1例偶尔可见Auer小体。这些病例中髓过氧化物酶和/或苏丹黑B染色阳性以及CD13阳性与髓系受累一致。在所有可评估的原发性ANLL-M7患者中均检测到相关骨髓增生异常特征的形态学证据。这些细胞学发现表明ANLL-M7可能经常代表多系增殖。细胞遗传学研究显示，各有3例出现-7/7q-和+8，单独出现或与其他异常合并出现。2例患者出现涉及3q21或3q26带的重排，1例患者出现+21作为额外异常。在1例患者中观察到的其他结构重排包括巨核母细胞复发伴骨髓嗜酸性粒细胞增多时的inv(16)(p13q22)、t(13;20)(q13或14;q11)、del(20)(q11)和der(7)t(7;17)(p14;q22)。这些异常的大多数断点位于恶性髓系干细胞疾病中经常重排的带区。对31例文献病例的回顾显示，ANLL-M7中经常出现-7/7q-和-5/5q-。到目前为止，ANLL-M7中描述的许多染色体异常似乎在一系列髓系肿瘤中都有出现，并且可能与赋予未分化干细胞增殖优势的机制有关。
