PMID- 18656694 OWN - NLM STAT- MEDLINE DCOM- 20080815 LR - 20080728 IS - 1873-4456 (Electronic) IS - 0165-4608 (Linking) VI - 185 IP - 1 DP - 2008 Aug TI - RUNX1-MTG16 fusion gene in acute myeloblastic leukemia with t(16;21)(q24;q22): case report and review of the literature. PG - 47-50 LID - 10.1016/j.cancergencyto.2008.04.011 [doi] AB - We report here a 73-year old female who was admitted for hematomas, dyspnea, and fever. Hematological data showed pancytopenia with 9% blast cells positive for CD13, CD33, CD34, HLAD2, and myeloperoxydase. A diagnosis of acute myeloid leukemia (AML) type 2 (FAB classification) was made. Banding cytogenetic techniques performed on bone marrow cells showed a 48,XX,+8,+9,del(9)(q22q33)x2 ,t(16;21)(q24;q22)[20]/46,XX[2] karyotype. Fluorescence in situ hybridization (FISH) with BACs covering the RUNX1 (alias AML1) (band 21q22) and MTG16 (band 16q24) gene showed a fusion of both genes. The t(16;21)(q24;q22) has been described in 16 AML cases, including ours. Eleven patients had received chemotherapy for a previous cancer, most of them were been treated with DNA-topoisomerase II inhibitors known to be associated with chromosomal translocations involving the RUNX1 gene. The significant homology between MGT16 and MTG8 suggests that the RUNX1-MTG16 fusion gene induced by the t(16;21)(q24;q22) is a variant of the RUNX1-MTG8 that shares similar activity. FAU - De Braekeleer, Etienne AU - De Braekeleer E AD - Laboratoire d'Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, F-29238 Brest, Cedex 3, France. FAU - Douet-Guilbert, Nathalie AU - Douet-Guilbert N FAU - Le Bris, Marie-Josee AU - Le Bris MJ FAU - Morel, Frederic AU - Morel F FAU - Ferec, Claude AU - Ferec C FAU - De Braekeleer, Marc AU - De Braekeleer M LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Review PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (CBFA2T3 protein, human) RN - 0 (Core Binding Factor Alpha 2 Subunit) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (Phosphoproteins) RN - 0 (RUNX1 protein, human) RN - 0 (Repressor Proteins) RN - 0 (Tumor Suppressor Proteins) SB - IM MH - Aged MH - Chromosome Deletion MH - Chromosomes, Artificial, Bacterial MH - *Chromosomes, Human, Pair 16 MH - *Chromosomes, Human, Pair 21 MH - Core Binding Factor Alpha 2 Subunit/*genetics MH - Cytogenetic Analysis MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Leukemia, Myeloid, Acute/classification/diagnosis/*genetics MH - Oncogene Proteins, Fusion/genetics MH - Phosphoproteins/*genetics MH - Repressor Proteins/*genetics MH - *Translocation, Genetic MH - Tumor Suppressor Proteins/*genetics RF - 22 EDAT- 2008/07/29 09:00 MHDA- 2008/08/16 09:00 CRDT- 2008/07/29 09:00 PHST- 2008/01/30 00:00 [received] PHST- 2008/04/05 00:00 [revised] PHST- 2008/04/14 00:00 [accepted] PHST- 2008/07/29 09:00 [pubmed] PHST- 2008/08/16 09:00 [medline] PHST- 2008/07/29 09:00 [entrez] AID - S0165-4608(08)00265-3 [pii] AID - 10.1016/j.cancergencyto.2008.04.011 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2008 Aug;185(1):47-50. doi: 10.1016/j.cancergencyto.2008.04.011.