Skip to main content
PMC home page
The American Journal of Pathology logoLink to The American Journal of Pathology
. 1998 Feb;152(2):431–435.

Cloning and molecular characterization of part of a new gene fused to HMGIC in mesenchymal tumors.

B Kazmierczak 1, P Dal Cin 1, S Wanschura 1, S Bartnitzke 1, H Van den Berghe 1, J Bullerdiek 1
PMCID: PMC1857946  PMID: 9466569

Abstract

Aberrations of the HMGIC gene, encoding an architectural transcription factor and located in the chromosomal region 12q15, are very frequent among benign mesenchymal tumors, such as lipomas, uterine leiomyomas, or pulmonary chondroid hamartomas. These HMGIC aberrations are caused by characteristic structural chromosomal aberrations, either visible by conventional cytogenetics or as cryptic abnormalities. Some of these aberrations of chromosome 12 are not specific for particular tumor entities but can occur in a variety of tumors with HMGIC abnormalities. One such example is the pericentric inversion inv(12)(p11.2q15). Starting from the ectopic sequence derived from an HMGIC fusion transcript of an aggressive angiomyxoma with such an inversion we established three PAC clones covering the breakpoint region 12p11 and cloned part of a yet unknown gene in 12p11.2, which is fused to the third exon of HMGIC. Using fluorescence in situ hybridization with these PACs we were able to show that the same region was involved by 12p11.2 aberrations in lipomas, aggressive angiomyxomas, and pulmonary chondroid hamartomas.

Full text

PDF
431

Images in this article

434Figure 2
on p.434

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Ashar H. R., Fejzo M. S., Tkachenko A., Zhou X., Fletcher J. A., Weremowicz S., Morton C. C., Chada K. Disruption of the architectural factor HMGI-C: DNA-binding AT hook motifs fused in lipomas to distinct transcriptional regulatory domains. Cell. 1995 Jul 14;82(1):57–65. doi: 10.1016/0092-8674(95)90052-7. [DOI] [PubMed] [Google Scholar]
  2. Bullerdiek J., Bartnitzke S., Weinberg M., Chilla R., Haubrich J., Schloot W. Rearrangements of chromosome region 12q13----q15 in pleomorphic adenomas of the human salivary gland (PSA). Cytogenet Cell Genet. 1987;45(3-4):187–190. doi: 10.1159/000132452. [DOI] [PubMed] [Google Scholar]
  3. Fletcher J. A., Longtine J., Wallace K., Mentzer S. J., Sugarbaker D. J. Cytogenetic and histologic findings in 17 pulmonary chondroid hamartomas: evidence for a pathogenetic relationship with lipomas and leiomyomas. Genes Chromosomes Cancer. 1995 Mar;12(3):220–223. doi: 10.1002/gcc.2870120310. [DOI] [PubMed] [Google Scholar]
  4. Geurts J. M., Schoenmakers E. F., Röijer E., Stenman G., Van de Ven W. J. Expression of reciprocal hybrid transcripts of HMGIC and FHIT in a pleomorphic adenoma of the parotid gland. Cancer Res. 1997 Jan 1;57(1):13–17. [PubMed] [Google Scholar]
  5. Heim S., Mandahl N., Kristoffersson U., Mitelman F., Röser B., Rydholm A., Willén H. Reciprocal translocation t(3;12)(q27;q13) in lipoma. Cancer Genet Cytogenet. 1986 Dec;23(4):301–304. doi: 10.1016/0165-4608(86)90012-9. [DOI] [PubMed] [Google Scholar]
  6. Heim S., Nilbert M., Vanni R., Floderus U. M., Mandahl N., Liedgren S., Lecca U., Mitelman F. A specific translocation, t(12;14)(q14-15;q23-24), characterizes a subgroup of uterine leiomyomas. Cancer Genet Cytogenet. 1988 May;32(1):13–17. doi: 10.1016/0165-4608(88)90305-6. [DOI] [PubMed] [Google Scholar]
  7. Johansson M., Heim S., Mandahl N., Johansson L., Hambraeus G., Mitelman F. t(3;6;14)(p21;p21;q24) as the sole clonal chromosome abnormality in a hamartoma of the lung. Cancer Genet Cytogenet. 1992 Jun;60(2):219–220. doi: 10.1016/0165-4608(92)90026-5. [DOI] [PubMed] [Google Scholar]
  8. Kazmierczak B., Hennig Y., Wanschura S., Rogalla P., Bartnitzke S., Van de Ven W., Bullerdiek J. Description of a novel fusion transcript between HMGI-C, a gene encoding for a member of the high mobility group proteins, and the mitochondrial aldehyde dehydrogenase gene. Cancer Res. 1995 Dec 15;55(24):6038–6039. [PubMed] [Google Scholar]
  9. Kazmierczak B., Rosigkeit J., Wanschura S., Meyer-Bolte K., Van de Ven W. J., Kayser K., Krieghoff B., Kastendiek H., Bartnitzke S., Bullerdiek J. HMGI-C rearrangements as the molecular basis for the majority of pulmonary chondroid hamartomas: a survey of 30 tumors. Oncogene. 1996 Feb 1;12(3):515–521. [PubMed] [Google Scholar]
  10. Kazmierczak B., Wanschura S., Meyer-Bolte K., Caselitz J., Meister P., Bartnitzke S., Van de Ven W., Bullerdiek J. Cytogenic and molecular analysis of an aggressive angiomyxoma. Am J Pathol. 1995 Sep;147(3):580–585. [PMC free article] [PubMed] [Google Scholar]
  11. Kazmierczak B., Wanschura S., Rosigkeit J., Meyer-Bolte K., Uschinsky K., Haupt R., Schoenmakers E. F., Bartnitzke S., Van de Ven W. J., Bullerdiek J. Molecular characterization of 12q14-15 rearrangements in three pulmonary chondroid hamartomas. Cancer Res. 1995 Jun 15;55(12):2497–2499. [PubMed] [Google Scholar]
  12. Kievits T., Dauwerse J. G., Wiegant J., Devilee P., Breuning M. H., Cornelisse C. J., van Ommen G. J., Pearson P. L. Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization. Cytogenet Cell Genet. 1990;53(2-3):134–136. doi: 10.1159/000132913. [DOI] [PubMed] [Google Scholar]
  13. Krizman D. B., Berget S. M. Efficient selection of 3'-terminal exons from vertebrate DNA. Nucleic Acids Res. 1993 Nov 11;21(22):5198–5202. doi: 10.1093/nar/21.22.5198. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Mandahl N., Heim S., Arheden K., Rydholm A., Willén H., Mitelman F. Three major cytogenetic subgroups can be identified among chromosomally abnormal solitary lipomas. Hum Genet. 1988 Jul;79(3):203–208. doi: 10.1007/BF00366238. [DOI] [PubMed] [Google Scholar]
  15. Petit M. M., Mols R., Schoenmakers E. F., Mandahl N., Van de Ven W. J. LPP, the preferred fusion partner gene of HMGIC in lipomas, is a novel member of the LIM protein gene family. Genomics. 1996 Aug 15;36(1):118–129. doi: 10.1006/geno.1996.0432. [DOI] [PubMed] [Google Scholar]
  16. Schoenmakers E. F., Wanschura S., Mols R., Bullerdiek J., Van den Berghe H., Van de Ven W. J. Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours. Nat Genet. 1995 Aug;10(4):436–444. doi: 10.1038/ng0895-436. [DOI] [PubMed] [Google Scholar]
  17. Turc-Carel C., Dal Cin P., Boghosian L., Terk-Zakarian J., Sandberg A. A. Consistent breakpoints in region 14q22-q24 in uterine leiomyoma. Cancer Genet Cytogenet. 1988 May;32(1):25–31. doi: 10.1016/0165-4608(88)90307-x. [DOI] [PubMed] [Google Scholar]
  18. Turc-Carel C., Dal Cin P., Rao U., Karakousis C., Sandberg A. A. Cytogenetic studies of adipose tissue tumors. I. A benign lipoma with reciprocal translocation t(3;12)(q28;q14). Cancer Genet Cytogenet. 1986 Dec;23(4):283–289. doi: 10.1016/0165-4608(86)90010-5. [DOI] [PubMed] [Google Scholar]
  19. Vanni R., Dal Cin P., Marras S., Moerman P., Andria M., Valdes E., Deprest J., Van den Berghe H. Endometrial polyp: another benign tumor characterized by 12q13-q15 changes. Cancer Genet Cytogenet. 1993 Jul 1;68(1):32–33. doi: 10.1016/0165-4608(93)90070-3. [DOI] [PubMed] [Google Scholar]
  20. Vanni R., Lecca U. Involvement of the long arm of chromosome 12 in chromosome rearrangements of uterine leiomyoma. Cancer Genet Cytogenet. 1988 May;32(1):33–34. doi: 10.1016/0165-4608(88)90308-1. [DOI] [PubMed] [Google Scholar]
  21. Walter T. A., Fan S. X., Medchill M. T., Berger C. S., Decker H. J., Sandberg A. A. inv(12)(p11.2q13) in an endometrial polyp. Cancer Genet Cytogenet. 1989 Aug;41(1):99–103. doi: 10.1016/0165-4608(89)90113-1. [DOI] [PubMed] [Google Scholar]
  22. Williams A. J., Powell W. L., Collins T., Morton C. C. HMGI(Y) expression in human uterine leiomyomata. Involvement of another high-mobility group architectural factor in a benign neoplasm. Am J Pathol. 1997 Mar;150(3):911–918. [PMC free article] [PubMed] [Google Scholar]
  23. Wlodarska I., Marynen P., La Starza R., Mecucci C., Van den Berghe H. The ETV6, CDKN1B and D12S178 loci are involved in a segment commonly deleted in various 12p aberration in different hematological malignancies. Cytogenet Cell Genet. 1996;72(2-3):229–235. doi: 10.1159/000134197. [DOI] [PubMed] [Google Scholar]
  24. Xiao S., Lux M. L., Reeves R., Hudson T. J., Fletcher J. A. HMGI(Y) activation by chromosome 6p21 rearrangements in multilineage mesenchymal cells from pulmonary hamartoma. Am J Pathol. 1997 Mar;150(3):901–910. [PMC free article] [PubMed] [Google Scholar]

Articles from The American Journal of Pathology are provided here courtesy of American Society for Investigative Pathology

RESOURCES