PMID- 16213359 OWN - NLM STAT- MEDLINE DCOM- 20051125 LR - 20091119 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 162 IP - 2 DP - 2005 Oct 15 TI - 3'CBFbeta deletion associated with inv(16) in acute myeloid leukemia. PG - 122-6 AB - Recent reports have shown that concomitant submicroscopic deletions can occur in association with chromosomal translocations/inversions in several leukemia subtypes. Detectable by fluorescence in situ hybridization (FISH), these losses of sequence include deletion of the 5' region of the ABL gene and the 3' region of BCR in chronic myeloid leukemia (CML) and acute lymphoblastic leukemia (ALL), as well as the 5' region of ETO in acute myeloid leukemia (AML) French-American-British type M2 associated with t(8;21), 3'MLL in AML and ALL, and 3' core-binding factor beta (CBFbeta) in AML associated with inv(16). While it has been widely reported that submicroscopic deletions of the derivative 9 in CML have an adverse prognostic impact, the clinical significance, if any, of deletions associated with t(8;21), inv(16)/t(16;16), or MLL rearrangement is yet to be determined. We analyzed a series of 39 patients diagnosed with AML who had cytogenetically detectable inv(16)/t(16;16) by using a FISH probe for the CBFbeta region to determine the incidence of the 3'CBFbeta deletion. Deletions were detected in three patients (8%), all associated with inv(16), bringing the number of cases reported so far to seven. The prognostic significance of this finding remains unclear. FAU - Kelly, Johanna AU - Kelly J AD - National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Republic of Ireland. FAU - Foot, Nicola J AU - Foot NJ FAU - Conneally, Eibhlin AU - Conneally E FAU - Enright, Helen AU - Enright H FAU - Humphreys, Mervyn AU - Humphreys M FAU - Saunders, Karen AU - Saunders K FAU - Neat, Michael J AU - Neat MJ LA - eng PT - Case Reports PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (CBFB protein, human) RN - 0 (Core Binding Factor beta Subunit) SB - IM MH - Acute Disease MH - Adult MH - Aged MH - Chromosome Deletion MH - *Chromosome Inversion MH - *Chromosomes, Human, Pair 16 MH - Core Binding Factor beta Subunit/*genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Myeloid/*genetics MH - Male EDAT- 2005/10/11 09:00 MHDA- 2005/12/13 09:00 CRDT- 2005/10/11 09:00 PHST- 2004/10/18 00:00 [received] PHST- 2005/02/21 00:00 [revised] PHST- 2005/03/03 00:00 [accepted] PHST- 2005/10/11 09:00 [pubmed] PHST- 2005/12/13 09:00 [medline] PHST- 2005/10/11 09:00 [entrez] AID - S0165-4608(05)00136-6 [pii] AID - 10.1016/j.cancergencyto.2005.03.001 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2005 Oct 15;162(2):122-6. doi: 10.1016/j.cancergencyto.2005.03.001.