Rosati Roberto, La Starza Roberta, Barba Gianluca, Gorello Paolo, Pierini Valentina, Matteucci Caterina, Roti Giovanni, Crescenzi Barbara, Aloisi Teresa, Aversa Franco, Martelli Massimo Fabrizio, Mecucci Cristina
Hematology and Bone Marrow Transplantation Unit, University of Perugia, Policlinico Monteluce, via Brunamonti 51, 06122 Perugia, Italy.
Haematologica. 2007 Feb;92(2):232-5. doi: 10.3324/haematol.10538.
In hematologic malignancies chromosome aberrations generating fusion genes include cryptic deletions. In a patient with acute myeloid leukemia and normal karyo-type we discovered a new cryptic 9q34 deletion and here report the cytogenetic and molecular findings. The 9q34 deletion extends 2.5 megabases and juxtaposes the 5' TAF-I to the 3' CAN producing a TAF-I/CAN fusion gene. TAF-I/CAN transcribes into two fusion proteins bearing either TAF-Ialpha or TAF-Ibeta moieties. We set up molecular assays to monitor the chimeric TAF-Ialpha/CAN and TAF-Ibeta/CAN transcripts which, after hematopoietic stem cell transplantation from an HLA-identical sibling, were no longer detected.
在血液系统恶性肿瘤中，产生融合基因的染色体畸变包括隐匿性缺失。在一名急性髓系白血病且核型正常的患者中，我们发现了一种新的隐匿性9q34缺失，在此报告细胞遗传学和分子学研究结果。9q34缺失延伸2.5兆碱基，使5' TAF-I与3' CAN并列，产生TAF-I/CAN融合基因。TAF-I/CAN转录为两种带有TAF-Iα或TAF-Iβ部分的融合蛋白。我们建立了分子检测方法来监测嵌合的TAF-Iα/CAN和TAF-Iβ/CAN转录本，在接受来自 HLA 相同同胞的造血干细胞移植后，这些转录本不再被检测到。
