title: Unbalanced t(3;12) in a case of juvenile myelomonocytic leukemia (JMML) results in partial trisomy of 3q as defined by FISH.
abstract: Juvenile myelomonocytic leukemia (JMML) is a rare disorder of early childhood, to which no recurrent chromosome rearrangement has been yet associated. We report a case where leukemic cells harbored a 46,XX,der(12)t(3;12) (q21 approximately 22;p13.33) karyotype, resulting in partial trisomy of 3q. The origin of chromosome material translocated to chromosome 12 was assessed by chromosome painting using a whole chromosome 3-specific probe. The breakpoint regions were defined by FISH using YAC probes from 3q and 12p chromosomal regions. Interestingly, partial trisomy of 3q has been detected in a previously reported JMML case, consequent to the presence of a der(15)t(3;15)(q13.1;q26). The involvement of a similar chromosome 3 rearrangement in these two JMML cases suggests the hypothesis that either the resulting duplication of some gene/s on 3q or the loss of heterozygosity (LOH) of some gene/s on 3p may be involved in one of the steps leading to JMML. On the other hand, it cannot be ruled out that the relevant mutation in our case might be consequent to the particular breakpoints at bands 3q21 approximately 22 and 12p13.3, that may alter the structure and/or expression of the involved gene/s.
authors.affiliation: Clinica Pediatrica, Università di Milano, Ospedale San Gerardo, Monza, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Tosi
authors.forename: G
authors.initials: G
authors.lastname: Mosna
authors.forename: G
authors.initials: G
authors.lastname: Cazzaniga
authors.forename: G
authors.initials: G
authors.lastname: Giudici
authors.forename: L
authors.initials: L
authors.lastname: Kearney
authors.forename: A
authors.initials: A
authors.lastname: Biondi
authors.forename: E
authors.initials: E
authors.lastname: Privitera
mesh_terms: D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D002893:Chromosomes, Human, Pair 3; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics*; D009196:Myeloproliferative Disorders / Q000235:genetics*; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D004268:DNA-Binding Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein