Secker-Walker L M, Morgan G J, Min T, Swansbury G J, Craig J, Yamada T, Desalvo L, Medina J W, Chowdhury V, Donahue R P
Department of Haematology, Royal Free Hospital and School of Medicine, London, UK.
Cancer Genet Cytogenet. 1992 Jan;58(1):29-34. doi: 10.1016/0165-4608(92)90129-v.
Two cases are described with the rare combination of inv(16)(p13q22), strongly associated with acute myelomonocytic leukemia with eosinophilia, M4Eo, and the Philadelphia translocation, t(9;22)(q34;q11), hallmark of chronic myeloid leukemia (CML) and rarely found, (less than 1%), in acute nonlymphocytic leukemia. The patients were: case 1, a 9-year-old girl presenting with a white blood cell count (WBC) 42 x 10(9)/L with 32% blasts and bone marrow with blasts and eosinophil precursors consistent with M4Eo, and case 2, a 25-year-old man with WBC 34.7 x 10(9)/L with 13% blasts and bone marrow with features of M4Eo and basophilia. Both patients achieved remission but died following bone marrow transplantation in first remission (case 1) or in relapse (case 2). Cytogenetic findings were: case 1, at diagnosis, 46,XX,inv(16)(p13q22)(21)/46,XX,t(9;22) (q34;q11),inv(16)(8)/46,XX(10), and case 2, at diagnosis, 46,XY,t(9;22) (q34;q11),inv(16)(p13q22) (16) and in remission, 46,XY,t(9;22)(q34;q11) (1)/46,XY (24). Investigation of the breakpoint on 22 in case 1 with Southern blotting and the polymerase chain reaction demonstrated the presence of a p190 mRNA and a breakpoint typical of acute leukemia. Thus a diagnosis of M4Eo was supported by clinical and cytogenetic sequelae in each case; the Ph in case 1 was apparently secondary to inv(16), in case 2 the Ph probably preceded inv(16) in the etiology of the leukemia.
本文描述了两例罕见的病例，患者同时具有inv(16)(p13q22)，该异常与伴有嗜酸性粒细胞增多的急性粒单核细胞白血病（M4Eo）密切相关，以及费城染色体易位t(9;22)(q34;q11)，后者是慢性髓性白血病（CML）的标志，在急性非淋巴细胞白血病中很少见（不到1%）。患者情况如下：病例1为一名9岁女孩，白细胞计数（WBC）为42×10⁹/L，原始细胞占32%，骨髓中原始细胞和嗜酸性粒细胞前体符合M4Eo；病例2为一名25岁男性，WBC为34.7×10⁹/L，原始细胞占13%，骨髓具有M4Eo和嗜碱性粒细胞增多的特征。两名患者均达到缓解，但在首次缓解期（病例1）或复发期（病例2）进行骨髓移植后死亡。细胞遗传学检查结果如下：病例1诊断时为46,XX,inv(16)(p13q22)(21)/46,XX,t(9;22)(q34;q11),inv(16)(8)/46,XX(10)；病例2诊断时为46,XY,t(9;22)(q34;q11),inv(16)(p13q22)(16)，缓解期为46,XY,t(9;22)(q34;q11)(1)/46,XY(24)。对病例1 22号染色体上的断裂点进行Southern印迹法和聚合酶链反应检测，结果显示存在p190 mRNA以及急性白血病典型的断裂点。因此，临床和细胞遗传学结果均支持两例患者诊断为M4Eo；病例1中的费城染色体显然继发于inv(16)异常，病例2中在白血病病因学上费城染色体可能先于inv(16)出现。
