Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma.

Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma. Research Abstract Details 

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Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma. Abstract Text:

Rhabdomyosarcomas are characterized by loss of heterozygosity (LOH) at chromosome region 11p15.5, a region known to contain several imprinted genes including insulin-like growth factor 2 (IGF2), H19, and p57(KIP2). We analyzed 48 primary tumour samples and found distinct genetic changes at 11p15.5 in alveolar and embryonal histological subtypes. LOH was a feature of embryonal tumours, but at a lower frequency than previous studies. Loss of imprinting (LOI) of the IGF2 gene was detected in 6 of 13 informative cases, all harbouring PAX3-FKHR or PAX7-FKHR fusion genes characteristic of alveolar histology. In contrast, H19 imprinting was maintained in 14 of 15 informative cases and the case with H19 LOI had maintenance of the IGF2 imprint indicating separate mechanisms controlling imprinting of IGF2 and H19. The adult promoter of IGF2, P1, was used in 5 of 14 tumours and its expression was unrelated to IGF2 imprinting status implying a further mechanism of altered IGF2 regulation. The putative tumour suppressor gene p57(KIP2) was expressed in 15 of 29 tumours and expression was unrelated to allele status. Moreover, in tumours with p57(KIP2) expression, there was no evidence for inactivating mutations, suggesting that p57(KIP2) is not a tumour suppressor in rhabdomyosarcoma.

Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma. Publishing Authors By Initials

For similar proteins: transcription factors research abstracts see: proteins: transcription factors research

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Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Neoplasia (New York, N.Y.)

VOLUME: 1

Page Numbers: 340-8

Journal Abbreviation: Neoplasia

ISSN: 1522-8002

DAY: 6

MONTH: Oct

YEAR: 1999

Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma. Information

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LANGUAGE: eng

NlmUniqueID: 100886622

Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma. Keywords Mesh Terms:

KEYWORDS: Transcription Factors

MESH TERMS: genetics

Chemical & Substance for Abstract: Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma. Information

Substance Name: Insulin-Like Growth Factor II

Registry Number: 67763-97-7

Grant and Affiliation Information for Disruption of imprinted genes at chromosome region 11p15.5 in paediatric rhabdomyosarcoma.

AFFILIATION: Section of Paediatric Oncology, Institute of Cancer Research, Sutton, Surrey, UK. j.anderson@ich.ucl.ac.uk

Country: UNITED STATES

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MEDLINETA: Neoplasia

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