Frequency of structural abnormalities of the long arm of chromosome 12 in myelofibrosis with myeloid metaplasia.
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.
Andrieux
Joris
J
Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, Barre Nord CHRU, 2 Avenue Oscar Lambret, 59037, Lille Cedex, France. j-andrieux@chru-lille.fr
Demory
Jean Loup
JL
Morel
Pierre
P
Plantier
Isabelle
I
Dupriez
Brigitte
B
Caulier
Marie Thérèse
MT
Bauters
Francis
F
Laï
Jean Luc
JL
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