PMID- 11550285
OWN - NLM
STAT- MEDLINE
DCOM- 20011204
LR  - 20220331
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 32
IP  - 2
DP  - 2001 Oct
TI  - Chromosomal translocation t(8;12) induces aberrant HMGIC expression in aggressive 
      angiomyxoma of the vulva.
PG  - 172-6
AB  - Benign mesenchymal neoplasms associated with rearrangements of the DNA 
      architectural factor gene HMGIC on chromosome 12 include lipomas, uterine 
      leiomyomata, pulmonary chondroid hamartomas, endometrial polyps, salivary gland 
      pleomorphic adenomas, and breast fibroadenomas. Although HMGIC also has been 
      implicated in the pathobiology of aggressive angiomyxoma of the vulva, the 
      molecular mechanisms pertaining to this neoplasm are unclear. Tissue from a 
      recurrent aggressive angiomyxoma was investigated by cytogenetic and expression 
      analysis for HMGIC and HMGIY. The trypsin-Giemsa-banded karyotype showed a clonal 
      translocation between chromosomes 8 and 12 [46,XX,t(8;12)(p12;q15)]. Fluorescence 
      in situ hybridization (FISH) analysis with whole chromosome paint probes for 
      chromosomes 8 and 12 excluded cryptic involvement of other chromosomes. The 
      chromosome 12 breakpoint was mapped with two-color FISH analysis using cosmid 
      probes at the 5' and 3' termini of HMGIC. Both cosmid probes showed hybridization 
      to the normal chromosome 12 and the der(12) chromosome, indicating that the 
      breakpoint was 3' (telomeric) to the gene. Reverse transcriptase-polymerase chain 
      reaction (RT-PCR) analysis revealed HMGIC expression in the tumor, and 
      immunohistochemistry localized HMGIC expression to the tumor's spindle cells. 
      Like numerous benign mesenchymal tumors, this locally aggressive tumor is 
      associated with rearrangements near or within HMGIC, but chimeric gene formation 
      was not required for tumorigenesis. Inappropriate expression of this DNA binding 
      protein, however, may be important in the pathobiology of this tumor. 
      Understanding the pathogenetic mechanism may also be helpful in developing new 
      diagnostic tools for identifying residual disease.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Nucci, M R
AU  - Nucci MR
AD  - Division of Women's and Perinatal Pathology, Brigham and Women's Hospital and 
      Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
FAU - Weremowicz, S
AU  - Weremowicz S
FAU - Neskey, D M
AU  - Neskey DM
FAU - Sornberger, K
AU  - Sornberger K
FAU - Tallini, G
AU  - Tallini G
FAU - Morton, C C
AU  - Morton CC
FAU - Quade, B J
AU  - Quade BJ
LA  - eng
GR  - CA 72594/CA/NCI NIH HHS/United States
GR  - CA 78895/CA/NCI NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (HMGA2 Protein)
RN  - 0 (Neoplasm Proteins)
SB  - IM
MH  - Adult
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Female
MH  - Gene Expression Regulation, Neoplastic/*genetics
MH  - HMGA2 Protein/*genetics
MH  - Humans
MH  - Myxoma/*genetics/pathology
MH  - Neoplasm Proteins/*genetics
MH  - Translocation, Genetic/*genetics
MH  - Vulvar Neoplasms/*genetics/pathology
EDAT- 2001/09/11 10:00
MHDA- 2002/01/05 10:01
CRDT- 2001/09/11 10:00
PHST- 2001/09/11 10:00 [pubmed]
PHST- 2002/01/05 10:01 [medline]
PHST- 2001/09/11 10:00 [entrez]
AID - 10.1002/gcc.1179 [pii]
AID - 10.1002/gcc.1179 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2001 Oct;32(2):172-6. doi: 10.1002/gcc.1179.