Transcriptional activation of HMGI-C in three pulmonary hamartomas each with a der(14)t(12;14) as the sole cytogenetic abnormality.
Aberrations involving the chromosomal region 12q14-15 are non-random cytogenetic abnormalities in many benign tumors, e.g. pulmonary chondroid hamartomas (PCH). Recently, we identified rearrangements of the HMGI-C gene within the third or fourth intron as the molecular mechanism underlying most of these chromosomal aberrations. Herein we report our FISH and RACE studies on three PCHs each showing a rare variant type of the translocation t(12;14)(q14-15;q24) with presence of two normal chromosomes 12 and a der(14) but missing the der(12). The results revealed that in all three cases the breakpoint is located 5' to HMGI-C, suggesting that besides intragenic rearrangements also transcriptional activation of the gene can initiate tumor growth.
Wanschura
S
S
Center for Human Genetics and Genetic Counseling, University of Bremen, Germany.
Kazmierczak
B
B
Pohnke
Y
Y
Meyer-Bolte
K
K
Bartnitzke
S
S
Van de Ven
W J
WJ
Bullerdiek
J
J
D001483:Base Sequence; D002881:Chromosomes, Human, Pair 12; D002883:Chromosomes, Human, Pair 14; D015321:Gene Rearrangement; D025743:HMGA2 Protein; D006222:Hamartoma / Q000235:genetics*; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D008168:Lung / Q000002:abnormalities*; D008969:Molecular Sequence Data; D015533:Transcriptional Activation; D014178:Translocation, Genetic
D025743:HMGA2 Protein; D006609:High Mobility Group Proteins