Yamamoto Katsuya, Nagata Kaoru, Tsurukubo Yoshito, Inagaki Koichi, Ono Ryoichi, Taki Tomohiko, Hayashi Yasuhide, Hamaguchi Hiroyuki
Department of Hematology, Musashino Red Cross Hospital, 1-26-1 Kyonan-cho, Musashino, 180-8610, Tokyo, Japan.
Cancer Genet Cytogenet. 2002 Aug;137(1):64-7. doi: 10.1016/s0165-4608(02)00555-1.
We report here the first case of acute myelomonocytic leukemia (AMMoL) with both t(8;12)(q13;p13) and t(11;19)(q23;p13.1). A 75-year-old woman was initially diagnosed as having AMMoL with t(11;19) (q23;p13) as a sole abnormality. At the second relapse, G-banding analysis of the bone marrow cells showed 46,XX,t(11;19)(q23;p13)/46,XX,t(8;12)(q13;p13),t(11;19)(q23;p13). Fluorescence in situ hybridization analysis with chromosome-specific painting probes confirmed both the der(8)t(8;12) and the der(12)t(8;12). Reverse transcription-polymerase chain reaction analysis detected the MLL/ELL fusion transcript, indicating that the breakpoint on chromosome 19 was 19p13.1. Leukemic cells at the second relapse were positive for CD2, CD13, CD33, and CD34 but negative for CD14 and HLA-DR. The patient died within 2 months after a subclone with t(8;12)(q13;p13) had appeared. In the literature, t(8;12)(q12;p13) has been observed in two cases of myelodysplastic syndrome and one case of acute myeloblastic leukemia. Our results indicated that t(8;12)(q13;p13) may be one of the recurrent aberrations in myeloid malignancies, although molecular heterogeneity of the breakpoints might exist. Furthermore, it is suggested that t(8;12)(q13;p13) may play an important role in the progression of the disease and lead to the poor prognosis.
我们在此报告首例同时具有t(8;12)(q13;p13)和t(11;19)(q23;p13.1)的急性粒单核细胞白血病（AMMoL）。一名75岁女性最初被诊断为AMMoL，唯一异常为t(11;19)(q23;p13)。在第二次复发时，对骨髓细胞进行G显带分析显示为46,XX,t(11;19)(q23;p13)/46,XX,t(8;12)(q13;p13),t(11;19)(q23;p13)。使用染色体特异性涂染探针进行荧光原位杂交分析证实了der(8)t(8;12)和der(12)t(8;12)。逆转录聚合酶链反应分析检测到MLL/ELL融合转录本，表明19号染色体上的断点位于19p13.1。第二次复发时的白血病细胞CD2、CD13、CD33和CD34呈阳性，但CD14和HLA-DR呈阴性。在出现携带t(8;12)(q13;p13)的亚克隆后2个月内患者死亡。在文献中，t(8;12)(q12;p13)已在2例骨髓增生异常综合征和1例急性髓细胞白血病中观察到。我们的结果表明，t(8;12)(q13;p13)可能是髓系恶性肿瘤中反复出现的畸变之一，尽管断点可能存在分子异质性。此外，提示t(8;12)(q13;p13)可能在疾病进展中起重要作用并导致预后不良。
