Supernumerary ring marker chromosome as a secondary rearrangement in a parapharyngeal lipoma with t(10;12)(q25;q15) as the primary karyotypic abnormality.
Cytogenetic analysis of a large parapharyngeal lipoma, a rare tumor at this site, showed the karyotype 46,XY,t(10;12)(q25;q15)/47,XY,t(10;12)(q25;q15),+r. The primary abnormality must have been t(10;12), whereas the +r developed secondarily as an additional aberration. Although a similar translocation between chromosomes 10 and 12 has not been described previously, that the tumor had a rearrangement of the 12q13-15 region, the most frequently involved genomic region in lipogenic tumors, indicates that the tumorigenetic mechanisms are identical in parapharyngeal lipomas and lipomas of other locations. Supernumerary ring markers are not usually detected in lipomas with 12q rearrangements but are common in atypical lipomas and well-differentiated liposarcomas. The parapharyngeal lipoma we describe recurred after initial resection, and we hypothesize that the more aggressive tumor phenotype thus demonstrated may be causally related to the clonal evolution it had undergone.
Higashi
K
K
Department of Otolaryngology, Akita University, Japan.
Sarashina
N
N
Okamoto
T
T
Matsuki
C
C
Heim
S
S
D002879:Chromosomes, Human, Pair 10; D002881:Chromosomes, Human, Pair 12; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008067:Lipoma / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010610:Pharyngeal Neoplasms / Q000235:genetics* / Q000473:pathology; D012303:Ring Chromosomes; D014178:Translocation, Genetic
D005819:Genetic Markers