A cytogenetic study of 397 consecutive acute myeloid leukemia cases identified three with a t(7;21) associated with 5q abnormalities and exhibiting similar clinical and biological features, suggesting a new, rare acute myeloid leukemia entity

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• 作者：Eric Je ; idier ; Carine Gervais ; Isabelle Radford-Weiss ; Estelle Zink ; Catherine Gangneux ; Alice Eischen ; Anne C¨¦cile Galoisy ; Catherine Helias ; Laurent Dano ; Ornella Cammarata ; Georges Jung ; In¨¨s Harzallah ; Eric Gu¨¦rin ; Lionel Martzolff ; Bernard Dr¨¦nou ; Bruno Lioure ; C¨¦line Tancr¨¦di ; Val¨¦rie Rimelen ; Laurent Mauvieux
• 关键词：Acute myeloid leukemia ; t(7 ; 21) translocation ; RUNX1 ; USP42
• 刊名：Cancer Genetics
• 出版年：2012
• 出版时间：July-August, 2012
• 年：2012
• 卷：205
• 期：7-8
• 页码：365-372
• 全文大小：537 K

文摘

The RUNX1 gene is implicated in numerous chromosomal translocations that occur in acute myeloid leukemia (AML) and result in chimeric genes. In this study, 397 consecutive AML cases were analyzed using RUNX1 fluorescence in situ hybridization (FISH) probes. Three cases of the recently described translocation, t(7;21)(p22;q22), were identified, which expressed RUNX1-USP42 (ubiquitin-specific protease 42) fusion transcripts, associated with 5q abnormalities and hyperploidy. These cases displayed homogeneous morphological features (including phagocytosis) and aberrantly expressed CD56 and CD7 lymphoid antigens. Although very few data are available from previously reported cases, when these features are present, a detailed chromosomal analysis, including hybridization with RUNX1 FISH probes, should be performed at diagnosis to recognize chromosomal abnormalities. Additional cases of t(7;21) positive AML should be evaluated to characterize this potentially rare AML entity in greater detail.