An endometrial polyp with a rearrangement of HMGI-C underlying a complex cytogenetic rearrangement involving chromosomes 2 and 12.
Cytogenetic studies of an endometrial polyp of an 82-year-old patient revealed a karyotype 46,XX,der(2)inv(2)(p25q21)ins(2;12)(p25;q13q14)t(2;12)(q21; q15),der(12)del(12)(q13q14)del(12)(q15). By fluorescence in situ hybridization (FISH) we found the chromosome 12 translocation breakpoint to be mapping within the third intron of the HMGI-C gene also harboring the breakpoints of translocations involving 12q15 seen in uterine leiomyomas, lipomas, pleomorphic adenomas, and pulmonary chondroid hamartomas.
Bol
S
S
Center of Human Genetics and Genetic Counselling, University of Bremen, Germany.
Wanschura
S
S
Thode
B
B
Deichert
U
U
Van de Ven
W J
WJ
Bartnitzke
S
S
Bullerdiek
J
J
D000230:Adenocarcinoma; D000368:Aged; D000369:Aged, 80 and over; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics / Q000648:ultrastructure*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics / Q000648:ultrastructure*; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D025743:HMGA2 Protein; D006609:High Mobility Group Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007889:Leiomyoma; D009363:Neoplasm Proteins / Q000235:genetics; D009378:Neoplasms, Multiple Primary; D011127:Polyps / Q000235:genetics*; D014178:Translocation, Genetic; D014594:Uterine Neoplasms
D025743:HMGA2 Protein; D006609:High Mobility Group Proteins; D009363:Neoplasm Proteins