PMID- 9204976 OWN - NLM STAT- MEDLINE DCOM- 19970717 LR - 20190914 IS - 0887-6924 (Print) IS - 0887-6924 (Linking) VI - 11 IP - 7 DP - 1997 Jul TI - Detection of 16 p deletions by FISH in patients with inv(16) or t(16;16) and acute myeloid leukemia (AML). PG - 964-70 AB - Deletions of sequences centromeric to the p-arm breakpoint have been described in a subset of patients with inv(16) and acute myeloid leukemia (AML) and reported to be associated with a relatively good prognosis. We have investigated 16 p deletions in a cohort of 15 patients with AML and inv(16) or t(16;16) and compared non-deletion and deletion patients in terms of clinical course. Patients were studied by fluorescence in situ hybridization (FISH) using cosmid zit14 as a probe to detect the presence of 16 p deletions in metaphase chromosomes of leukemic cells. While seven patients (47%) revealed no evidence of a deletion, five patients (33%) presented 16 p deletions, thus bringing further support to the relatively frequent occurrence of this event in inv(16) patients. Remarkably, two patients with inv(16) and one patient with t(16;16) showed a mosaicism of deletion and non-deletion metaphases suggesting the presence of two distinct leukemic cell populations. Results let us assume that 16 p deletions are not restricted to inv(16) and may occur subsequently to inv(16) or t(16;16). The presence of a 16 p deletion in a case of inv(16) associated with CBFB-MYH11 transcript type E indicates that deletions are not limited to CBFB-MYH11 transcript type A rearrangements. Survival of deletion patients was compared with that of non-deletion and mosaic ones. No significant differences were observed. The advantage of FISH for enumerative and quantitative assessment of submicroscopic rearrangements of clinical significance is further emphasized. FAU - Martinet, D AU - Martinet D AD - Division Autonome de Genetique Medicale, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland. FAU - Muhlematter, D AU - Muhlematter D FAU - Leeman, M AU - Leeman M FAU - Parlier, V AU - Parlier V FAU - Hess, U AU - Hess U FAU - Gmur, J AU - Gmur J FAU - Jotterand, M AU - Jotterand M LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Leukemia JT - Leukemia JID - 8704895 SB - IM MH - Adolescent MH - Adult MH - Aged MH - *Chromosome Deletion MH - *Chromosome Inversion MH - *Chromosomes, Human, Pair 16 MH - Female MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Leukemia, Myeloid, Acute/*genetics MH - Male MH - Middle Aged MH - *Translocation, Genetic EDAT- 1997/07/01 00:00 MHDA- 1997/07/01 00:01 CRDT- 1997/07/01 00:00 PHST- 1997/07/01 00:00 [pubmed] PHST- 1997/07/01 00:01 [medline] PHST- 1997/07/01 00:00 [entrez] AID - 10.1038/sj.leu.2400681 [doi] PST - ppublish SO - Leukemia. 1997 Jul;11(7):964-70. doi: 10.1038/sj.leu.2400681.