Duplication of chromosome segment 12q15-24 is associated with atypical lipomatous tumors: a report of the CHAMP collaborative study group. CHromosomes And MorPhology.
Ordinary lipomas are cytogenetically characterized by a variety of balanced rearrangements involving chromosome segment 12ql3-15, and atypical lipomatous tumors (ALT) by supernumerary ring chromosomes or giant markers known to contain amplified 12q sequences. In a series of 228 cytogenetically analyzed and histopathologically reexamined ordinary lipomas and ALT, 10 tumors showed unbalanced chromosome-12 aberrations. All 4 tumors with loss of segments from 12q were classified as ordinary lipomas, whereas 5 of the 6 tumors showing gain of 12q material were diagnosed as ALT. One or three extra copies of 12q15-q24 were present in all 5 ALT. We conclude that duplication of 12q sequences may be a sufficient level of amplification for development of the microscopic appearance that characterizes ALT.
Mandahl
N
N
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Akerman
M
M
Aman
P
P
Dal Cin
P
P
De Wever
I
I
Fletcher
C D
CD
Mertens
F
F
Mitelman
F
F
Rosai
J
J
Rydholm
A
A
Sciot
R
R
Tallini
G
G
Van den Berghe
H
H
Van de Ven
W
W
Vanni
R
R
Willén
H
H
D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D007621:Karyotyping; D008067:Lipoma / Q000235:genetics*; D008297:Male; D005810:Multigene Family