Douet-Guilbert Nathalie, Chauveau Aurelie, Gueganic Nadia, Guillerm Gaëlle, Tous Corine, Le Bris Marie-Josee, Basinko Audrey, Morel Frederic, Ugo Valerie, De Braekeleer Marc
Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France.
Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.
Hematol Oncol. 2017 Sep;35(3):385-389. doi: 10.1002/hon.2268. Epub 2015 Nov 2.
Inv(16)(p13q22) and t(16;16)(p13;q22) are cytogenetic hallmarks of acute myelomonoblastic leukaemia, most of them associated with abnormal bone marrow eosinophils [acute myeloid leukaemia French-American-British classification M4 with eosinophilia (FAB AML-M4Eo)] and a relatively favourable clinical course. They generate a 5'CBFB-3'MYH11 fusion gene. However, in a few cases, although RT-PCR identified a CBFB-MYH11 transcript, normal karyotype and/or fluorescent in situ hybridization (FISH) analyses using commercially available probes are found. We identified a 32-year-old woman with AML-M4Eo and normal karyotype and FISH results. Using two libraries of Bacterial Artificial Chromosome clones on 16p13 and 16q22, FISH analyses identified an insertion of 16q22 material in band 16p13, generating a CBFB-MYH11 type A transcript. Although very rare, insertions should be searched for in patients with discordant cytological and cytogenetic features because of the therapeutic consequences. Copyright © 2015 John Wiley & Sons, Ltd.
Inv(16)(p13q22)和t(16;16)(p13;q22)是急性粒单核细胞白血病的细胞遗传学特征，其中大多数与异常骨髓嗜酸性粒细胞有关[伴有嗜酸性粒细胞增多的急性髓系白血病法国-美国-英国分类M4(FAB AML-M4Eo)]，且临床病程相对较好。它们产生一个5'CBFB-3'MYH11融合基因。然而，在少数病例中，尽管逆转录聚合酶链反应(RT-PCR)鉴定出CBFB-MYH11转录本，但却发现核型正常和/或使用市售探针进行的荧光原位杂交(FISH)分析结果正常。我们鉴定出一名32岁患有FAB AML-M4Eo且核型和FISH结果正常的女性。利用位于16p13和16q22上的两个细菌人工染色体克隆文库，FISH分析鉴定出16q22物质插入到16p13带，产生一个CBFB-MYH11 A型转录本。由于其治疗后果，对于细胞学和细胞遗传学特征不一致的患者，尽管这种插入非常罕见，但仍应进行检测。版权所有© 2015约翰·威利父子有限公司。
