Morinaga S, Osato M, Yanabe Y, Takaki K, Kawano F, Asou N, Takatsuki K, Tsuchiya H, Matsuda I
Department of Pediatrics, Kumamoto National Hospital.
Rinsho Ketsueki. 1996 Jul;37(7):618-23.
We present a 15-year-old woman with acute myelomonocytic leukemia without marrow eosinophilia, M4 in the FAB classification. She was admitted to our hospital with nausea and headaches. Upon admission, the leukocyte count was 284,000/microliters with 95% leukemic cells. The bone marrow aspirate was hypercellular with 74.8% blasts and 0.2% eosinophils. Leukemic cells were positive for myeloperoxidase and esterase staining. Initially, the karyotype of the bone marrow cells on admission was considered to be normal. However, the PEBP2 beta/MYH11 fusion transcript was detected in the bone marrow mononuclear cells by using the reverse transcriptase-polymerase chain reaction (RT-PCR). Reevaluation of karyotypes showed a t(16;16) (p13;q22) in the bone marrow cells. After achieving complete remission, she was treated with low-dose etoposide. Chromosome analysis showed a normal karyotype and no amplified chimeric transcripts were observed. This case indicates that the molecular analysis of PEBP2 beta and MYH11 genes is a useful tool to detect inv (16) and t(16;16) which were often difficult to find, and that leukemic cells from some cases of M4 without marrow eosinophilia have these chromosome abnormalities.
我们报告一名15岁女性，患有急性粒单核细胞白血病，无骨髓嗜酸性粒细胞增多，FAB分类为M4型。她因恶心和头痛入院。入院时，白细胞计数为284,000/微升，其中95%为白血病细胞。骨髓穿刺显示细胞增多，原始细胞占74.8%，嗜酸性粒细胞占0.2%。白血病细胞髓过氧化物酶和酯酶染色呈阳性。最初，入院时骨髓细胞的核型被认为是正常的。然而，通过逆转录聚合酶链反应（RT-PCR）在骨髓单核细胞中检测到了PEBP2β/MYH11融合转录本。核型重新评估显示骨髓细胞存在t(16;16)(p13;q22)。完全缓解后，她接受了低剂量依托泊苷治疗。染色体分析显示核型正常，未观察到扩增的嵌合转录本。该病例表明，PEBP2β和MYH11基因的分子分析是检测inv(16)和t(16;16)的有用工具，而这些异常通常难以发现，并且一些无骨髓嗜酸性粒细胞增多的M4型白血病病例的白血病细胞存在这些染色体异常。
