title: Frequency of structural abnormalities of the long arm of chromosome 12 in myelofibrosis with myeloid metaplasia.
abstract: Among cytogenetic studies of 205 patients diagnosed as myelofibrosis with myeloid metaplasia, we found seven cases with structural abnormalities of the long arm of chromosome 12. The karyotype showed six balanced translocations, that is, t(4;12)(q33;q21), t(5;12)(p14;q21), t(1;12)(q22;q24), t(12;17)(q24;q11), t(7;12) (p11;q24), and t(1;12)(p12;q24), as well as other cytogenetic abnormalities such as del(12)(q21;q24) and inv(12) (p12q24). Some isolated cases involving the 12q21 region have also been described in the literature. Importance of rearrangement of chromosome 12 in 12q21 or 12q24 is underlined by the authors suggesting a proto-oncogene accountable mechanism of leukemogenesis.
authors.affiliation: Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, Barre Nord CHRU, 2 Avenue Oscar Lambret, 59037, Lille Cedex, France. j-andrieux@chru-lille.fr
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Jean Loup
authors.initials: JL
authors.lastname: Demory
authors.forename: Pierre
authors.initials: P
authors.lastname: Morel
authors.forename: Isabelle
authors.initials: I
authors.lastname: Plantier
authors.forename: Brigitte
authors.initials: B
authors.lastname: Dupriez
authors.forename: Marie Thérèse
authors.initials: MT
authors.lastname: Caulier
authors.forename: Francis
authors.initials: F
authors.lastname: Bauters
authors.forename: Jean Luc
authors.initials: JL
authors.lastname: Laï
mesh_terms: D000328:Adult; D000368:Aged; D001854:Bone Marrow Cells / Q000473:pathology*; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D055728:Primary Myelofibrosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D000090063:Proto-Oncogene Mas; D014178:Translocation, Genetic