Martinet D Mühlematter D Leeman M Parlier V Hess U Gmür J Jotterand M 1997 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. application/pdf https://sonar.ch/global/documents/277691 eng info:eu-repo/semantics/altIdentifier/doi/10.1038/sj.leu.2400681 info:eu-repo/semantics/altIdentifier/pmid/9204976 info:eu-repo/semantics/openAccess Leukemia. - 1997 Adolescent Adult Aged Chromosome Deletion Chromosome Inversion Chromosomes, Human, Pair 16 Female Humans In Situ Hybridization, Fluorescence Leukemia, Myeloid, Acute Male Middle Aged Translocation, Genetic Detection of 16 p deletions by FISH in patients with inv(16) or t(16;16) and acute myeloid leukemia (AML). http://purl.org/coar/resource_type/c_6501