Constitutional translocation t(3;6)(p14;p11) in a family with hematologic malignancies.
We describe a family with an inherited constitutional balanced translocation t(3;6)(p14;p11) and hematologic malignancies. Of two proven translocation carriers, one had acute myeloid leukemia and the other had myelofibrosis. A third member who had died of acute leukemia was a possible translocation carrier (chromosome analysis had not been performed). Five healthy translocation carriers were detected. Neither the translocation nor additional hematologic malignancies were found outside the nuclear family. It could not be definitely clarified if this constitutional translocation predisposes to hematologic malignancies. Breakpoint 3p14 has previously been implicated in recurrent cancer-associated rearrangements but 6p11 has not. We suggest that other investigators look for involvement of these breakpoints in cancer patients.
Markkanen
A
A
Ruutu
T
T
Rasi
V
V
Franssila
K
K
Knuutila
S
S
de la Chapelle
A
A
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D002893:Chromosomes, Human, Pair 3; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D007938:Leukemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D055728:Primary Myelofibrosis / Q000235:genetics*; D014178:Translocation, Genetic
D005819:Genetic Markers