PMID- 22867997 OWN - NLM STAT- MEDLINE DCOM- 20121009 LR - 20220331 IS - 2210-7762 (Print) VI - 205 IP - 7-8 DP - 2012 Jul-Aug TI - 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. PG - 365-72 LID - 10.1016/j.cancergen.2012.04.007 [doi] AB - 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. CI - Copyright (c) 2012 Elsevier Inc. All rights reserved. FAU - Jeandidier, Eric AU - Jeandidier E AD - Genetics Department, Centre Hospitalier de Mulhouse, Mulhouse, France. FAU - Gervais, Carine AU - Gervais C FAU - Radford-Weiss, Isabelle AU - Radford-Weiss I FAU - Zink, Estelle AU - Zink E FAU - Gangneux, Catherine AU - Gangneux C FAU - Eischen, Alice AU - Eischen A FAU - Galoisy, Anne Cecile AU - Galoisy AC FAU - Helias, Catherine AU - Helias C FAU - Dano, Laurent AU - Dano L FAU - Cammarata, Ornella AU - Cammarata O FAU - Jung, Georges AU - Jung G FAU - Harzallah, Ines AU - Harzallah I FAU - Guerin, Eric AU - Guerin E FAU - Martzolff, Lionel AU - Martzolff L FAU - Drenou, Bernard AU - Drenou B FAU - Lioure, Bruno AU - Lioure B FAU - Tancredi, Celine AU - Tancredi C FAU - Rimelen, Valerie AU - Rimelen V FAU - Mauvieux, Laurent AU - Mauvieux L LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet JT - Cancer genetics JID - 101539150 SB - IM MH - Adult MH - *Chromosomes, Human, Pair 21 MH - *Chromosomes, Human, Pair 5 MH - *Chromosomes, Human, Pair 7 MH - Humans MH - Immunophenotyping MH - In Situ Hybridization, Fluorescence MH - Leukemia, Myeloid, Acute/*genetics MH - Male MH - Middle Aged MH - *Translocation, Genetic EDAT- 2012/08/08 06:00 MHDA- 2012/10/10 06:00 CRDT- 2012/08/08 06:00 PHST- 2011/06/04 00:00 [received] PHST- 2012/04/10 00:00 [revised] PHST- 2012/04/14 00:00 [accepted] PHST- 2012/08/08 06:00 [entrez] PHST- 2012/08/08 06:00 [pubmed] PHST- 2012/10/10 06:00 [medline] AID - S2210-7762(12)00121-4 [pii] AID - 10.1016/j.cancergen.2012.04.007 [doi] PST - ppublish SO - Cancer Genet. 2012 Jul-Aug;205(7-8):365-72. doi: 10.1016/j.cancergen.2012.04.007.