DNA copy number changes in gastrointestinal stromal tumors - A distinct genetic entity

Wael El-Rifai, M. Sarlomo-Rikala, L. C. Andersson, M. Miettinen, S. Knuutila

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

It is not universally agreed whether gastrointestinal stromal tumors (GISTs) are pheno-typical variants of leiomyomas (LM) and leiomyosarcomas (LMS), or whether they belong to a separate phenotypic entity with a different genetic background. This is a summary of our published results from comparative genomic hybridization studies performed in order to solve this question. We studied DNA copy number changes in 32 immunohistochemically well-defined GISTs (13 malignant, 3 borderline, and 16 benign tumors), 14 LM, and 29 LMS. In GISTs, a consistent finding was the loss of DNA copy numbers in chromosome 14q. This loss was detected in 75 % of the benign tumors, in 62 % of the malignant tumors, and in two out of the three borderline tumors with the minimal overlapping region located to 14q22. The loss was not seen in LM and in LMS it was rare (4 cases, 13 %). Only three LM cases showed DNA copy number changes: gains in chromosome 3, 4, 5, 8, and 17. A total of 137 losses and 204 gains were detected in LMS. The most frequent losses were detected in 10q (20 cases, 69 %) and 13q (17 cases, 59 %). The most frequent gains were detected in 17p (16 cases, 55 %). The most frequent high-level amplifications were detected in 17p (7 cases, 24 %) and 8q (6 cases, 21 %). Our results indicate that DNA copy number losses in 14q are an early change during the oncogenesis of GISTs. Moreover, the pattern of the demonstrated DNA copy number changes suggests that GISTs are a phenotypic and genetic entity separate from leiomyomas and leiomyosarcomas.

Original languageEnglish (US)
Pages (from-to)287-290
Number of pages4
JournalScandinavian Journal of Surgery
Volume87
Issue number4
StatePublished - Dec 1 1998
Externally publishedYes

Fingerprint

DNA Copy Number Variations
Gastrointestinal Stromal Tumors
Leiomyosarcoma
Leiomyoma
Neoplasms
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 3
Comparative Genomic Hybridization
DNA
Carcinogenesis
Chromosomes

Keywords

  • CGH
  • GIST
  • Mesenchymal tumors of gastrointestinal tract

ASJC Scopus subject areas

  • Surgery

Cite this

El-Rifai, W., Sarlomo-Rikala, M., Andersson, L. C., Miettinen, M., & Knuutila, S. (1998). DNA copy number changes in gastrointestinal stromal tumors - A distinct genetic entity. Scandinavian Journal of Surgery, 87(4), 287-290.

DNA copy number changes in gastrointestinal stromal tumors - A distinct genetic entity. / El-Rifai, Wael; Sarlomo-Rikala, M.; Andersson, L. C.; Miettinen, M.; Knuutila, S.

In: Scandinavian Journal of Surgery, Vol. 87, No. 4, 01.12.1998, p. 287-290.

Research output: Contribution to journalArticle

El-Rifai, W, Sarlomo-Rikala, M, Andersson, LC, Miettinen, M & Knuutila, S 1998, 'DNA copy number changes in gastrointestinal stromal tumors - A distinct genetic entity', Scandinavian Journal of Surgery, vol. 87, no. 4, pp. 287-290.
El-Rifai W, Sarlomo-Rikala M, Andersson LC, Miettinen M, Knuutila S. DNA copy number changes in gastrointestinal stromal tumors - A distinct genetic entity. Scandinavian Journal of Surgery. 1998 Dec 1;87(4):287-290.
El-Rifai, Wael ; Sarlomo-Rikala, M. ; Andersson, L. C. ; Miettinen, M. ; Knuutila, S. / DNA copy number changes in gastrointestinal stromal tumors - A distinct genetic entity. In: Scandinavian Journal of Surgery. 1998 ; Vol. 87, No. 4. pp. 287-290.
@article{9595ec9f5c994afd9c7641533dca68a1,
title = "DNA copy number changes in gastrointestinal stromal tumors - A distinct genetic entity",
abstract = "It is not universally agreed whether gastrointestinal stromal tumors (GISTs) are pheno-typical variants of leiomyomas (LM) and leiomyosarcomas (LMS), or whether they belong to a separate phenotypic entity with a different genetic background. This is a summary of our published results from comparative genomic hybridization studies performed in order to solve this question. We studied DNA copy number changes in 32 immunohistochemically well-defined GISTs (13 malignant, 3 borderline, and 16 benign tumors), 14 LM, and 29 LMS. In GISTs, a consistent finding was the loss of DNA copy numbers in chromosome 14q. This loss was detected in 75 {\%} of the benign tumors, in 62 {\%} of the malignant tumors, and in two out of the three borderline tumors with the minimal overlapping region located to 14q22. The loss was not seen in LM and in LMS it was rare (4 cases, 13 {\%}). Only three LM cases showed DNA copy number changes: gains in chromosome 3, 4, 5, 8, and 17. A total of 137 losses and 204 gains were detected in LMS. The most frequent losses were detected in 10q (20 cases, 69 {\%}) and 13q (17 cases, 59 {\%}). The most frequent gains were detected in 17p (16 cases, 55 {\%}). The most frequent high-level amplifications were detected in 17p (7 cases, 24 {\%}) and 8q (6 cases, 21 {\%}). Our results indicate that DNA copy number losses in 14q are an early change during the oncogenesis of GISTs. Moreover, the pattern of the demonstrated DNA copy number changes suggests that GISTs are a phenotypic and genetic entity separate from leiomyomas and leiomyosarcomas.",
keywords = "CGH, GIST, Mesenchymal tumors of gastrointestinal tract",
author = "Wael El-Rifai and M. Sarlomo-Rikala and Andersson, {L. C.} and M. Miettinen and S. Knuutila",
year = "1998",
month = "12",
day = "1",
language = "English (US)",
volume = "87",
pages = "287--290",
journal = "Scandinavian Journal of Surgery",
issn = "1457-4969",
publisher = "Finnish Surgical Society",
number = "4",

}

TY - JOUR

T1 - DNA copy number changes in gastrointestinal stromal tumors - A distinct genetic entity

AU - El-Rifai, Wael

AU - Sarlomo-Rikala, M.

AU - Andersson, L. C.

AU - Miettinen, M.

AU - Knuutila, S.

PY - 1998/12/1

Y1 - 1998/12/1

N2 - It is not universally agreed whether gastrointestinal stromal tumors (GISTs) are pheno-typical variants of leiomyomas (LM) and leiomyosarcomas (LMS), or whether they belong to a separate phenotypic entity with a different genetic background. This is a summary of our published results from comparative genomic hybridization studies performed in order to solve this question. We studied DNA copy number changes in 32 immunohistochemically well-defined GISTs (13 malignant, 3 borderline, and 16 benign tumors), 14 LM, and 29 LMS. In GISTs, a consistent finding was the loss of DNA copy numbers in chromosome 14q. This loss was detected in 75 % of the benign tumors, in 62 % of the malignant tumors, and in two out of the three borderline tumors with the minimal overlapping region located to 14q22. The loss was not seen in LM and in LMS it was rare (4 cases, 13 %). Only three LM cases showed DNA copy number changes: gains in chromosome 3, 4, 5, 8, and 17. A total of 137 losses and 204 gains were detected in LMS. The most frequent losses were detected in 10q (20 cases, 69 %) and 13q (17 cases, 59 %). The most frequent gains were detected in 17p (16 cases, 55 %). The most frequent high-level amplifications were detected in 17p (7 cases, 24 %) and 8q (6 cases, 21 %). Our results indicate that DNA copy number losses in 14q are an early change during the oncogenesis of GISTs. Moreover, the pattern of the demonstrated DNA copy number changes suggests that GISTs are a phenotypic and genetic entity separate from leiomyomas and leiomyosarcomas.

AB - It is not universally agreed whether gastrointestinal stromal tumors (GISTs) are pheno-typical variants of leiomyomas (LM) and leiomyosarcomas (LMS), or whether they belong to a separate phenotypic entity with a different genetic background. This is a summary of our published results from comparative genomic hybridization studies performed in order to solve this question. We studied DNA copy number changes in 32 immunohistochemically well-defined GISTs (13 malignant, 3 borderline, and 16 benign tumors), 14 LM, and 29 LMS. In GISTs, a consistent finding was the loss of DNA copy numbers in chromosome 14q. This loss was detected in 75 % of the benign tumors, in 62 % of the malignant tumors, and in two out of the three borderline tumors with the minimal overlapping region located to 14q22. The loss was not seen in LM and in LMS it was rare (4 cases, 13 %). Only three LM cases showed DNA copy number changes: gains in chromosome 3, 4, 5, 8, and 17. A total of 137 losses and 204 gains were detected in LMS. The most frequent losses were detected in 10q (20 cases, 69 %) and 13q (17 cases, 59 %). The most frequent gains were detected in 17p (16 cases, 55 %). The most frequent high-level amplifications were detected in 17p (7 cases, 24 %) and 8q (6 cases, 21 %). Our results indicate that DNA copy number losses in 14q are an early change during the oncogenesis of GISTs. Moreover, the pattern of the demonstrated DNA copy number changes suggests that GISTs are a phenotypic and genetic entity separate from leiomyomas and leiomyosarcomas.

KW - CGH

KW - GIST

KW - Mesenchymal tumors of gastrointestinal tract

UR - http://www.scopus.com/inward/record.url?scp=30344449215&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=30344449215&partnerID=8YFLogxK

M3 - Article

C2 - 9891767

AN - SCOPUS:30344449215

VL - 87

SP - 287

EP - 290

JO - Scandinavian Journal of Surgery

JF - Scandinavian Journal of Surgery

SN - 1457-4969

IS - 4

ER -